A gap names a measurement, dataset, model or control that is missing, and links to the evidence records that say so. A gap is marked addressed only with the publication or record that addresses it. Gaps keep hypotheses honest about what remains open.
Open
3
Measurement proposed
4
Addressed
0
Missing dataOpen
Arimoclomol: no target engagement at relevant exposure, no exact-variant rescue
No direct BUBR1 or N1002K rescue evidence was located; heat-shock responses are context-dependent and total serum exposure is not interchangeable with nominal cell-culture concentration. Reconsideration requires target engagement at relevant exposure plus exact-variant functional rescue.
Curated: Record MVA-ARI-007 finding, limitations and next step
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
Missing measurementMeasurement proposed
Checkpoint competence and chromosome segregation have not been measured for either variant
Mitotic-arrest duration under spindle challenge is a checkpoint control, not chromosome-segregation fidelity in unperturbed divisions, and the published control variant (D137R) is not N1002K. Both endpoints must be measured separately for L737* and N1002K.
Curated: Case page, overview: "What remains unresolved"; record MVA-CTRL-006 limitations; Case page, 06 Future validation: "The next decisive measurements" (02)
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
Method or controlMeasurement proposed
Drug responses need viability, proliferation and completed-division controls
Fewer raw error-positive divisions can appear without a lower error rate per completed division. Before a drug response is interpreted, viability, proliferation and completed divisions must be accounted for; the denominator check exists only as a synthetic software test.
Curated: Case page, 06 Future validation: "The next decisive measurements" (03); record MVA-FUNC-005 finding; record MVA-AMLEXANOX-010 next step
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
Missing dataOpen
No exact L737* readthrough measurement exists
The 5,837-context readthrough table holds no exact L737* measurement and no exact six-flanking-base match; neighbouring contexts are not a prediction for this variant. Readthrough would also have to yield native leucine, a surviving transcript and functional BUBR1.
Curated: Record MVA-RT-002 finding and limitations
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
Missing measurementMeasurement proposed
L737* NMD susceptibility is predicted, not measured
Whether the L737* transcript is degraded by nonsense-mediated decay in cells carrying the variant has not been measured; the case treats it as a prediction. A related 731X construct motivates testing truncated-protein function once NMD is bypassed, but the exact L737* experiment has not been performed.
Curated: Case page, overview: "What remains unresolved"; record MVA-L737-NMD-FIRST-001 limitations ("NMD sensitivity is predicted, not measured for this child"); Case page, 06 Future validation: "The next decisive measurements" (01)
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
Missing measurementMeasurement proposed
N1002K stability and residual function are unresolved
No exact-N1002K functional experiment was located. I909T and L1012P are comparator variants, not substitutes; equal abundance is not universally sufficient for rescue. The proposed measurement compares WT, N1002K and L1012P at matched abundance in one depletion-replacement system.
Curated: Case page, overview: "What remains unresolved"; record MVA-N1002K-GATE-002 finding and next step; Case page, 06 Future validation: "The next decisive measurements" (01)
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
Model mismatchOpen
Readthrough-combination evidence comes from another gene and stop context
Endogenous-protein and withdrawal measurements for G418/ELX-02 with or without mefloquine were made on PKD1 Q2556X (a TAG stop), not on the L737* UGA premise; they establish neither gentamicin-combination efficacy nor BUB1B rescue.
Curated: Record MVA-RT-TRANSFER-009 finding and limitations
Evidence notes 0
Researchers' annotations on this item. They are the researcher's reading, not the content of a publication.
No notes yet.
BioLab is the biomedical research area of Stackfire Labs: research cases built around open evidence, reproducible reanalyses and an explicit record of what remains unresolved. It organizes evidence and proposes experiments; it does not run patient experiments or recommend treatments.
Two germline BUB1B variants in mosaic variegated aneuploidy raise separate questions: L737* is an RNA and translation question, N1002K a protein stability and function question. The case records reanalyses and evidence audits, an October 24, 2026 robustness audit and a candidate decision matrix. No exact-genotype pharmacological rescue is established; wet-lab validation remains future work.
A shared research library of publications kept as references, not copies. Every entry links to its original source and records which public bibliographic services supplied its metadata and when. Reading states and collections are bibliographic organization, never scientific validation.
The graph connects a case to its variants, processes, evidence records, publications and hypotheses. Solid lines are documented connections; dashed lines are hypotheses under review. A connection says that a source or record links two items: it is not evidence of causation or efficacy. Every view also has a list alternative.
A research trail is an ordered reading of the evidence, step by step. Hypotheses are statements under research with the evidence that informs or limits them; none is marked validated. Evidence gaps name what has not been measured or located. All of them link to existing records and publications instead of copying them.
The auditable record of the MVA reanalyses with their execution records and downloads, and a Protein Structure Explorer of the predicted BUBR1 model. Tools marked Planned are not built yet. Reanalyses of public processed data and predicted structures are not biological experiments.
No. BioLab is research context, not a clinical diagnostic report or a treatment recommendation. Drug candidates are research hypotheses with explicit gates, not proven treatments. Questions about a person’s care belong with their clinical team.