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ASXL3

HGNC ↗

Bainbridge-Ropers syndrome

2 article(s) in the watch · Constitutional genetics

Curated publications

7/10

ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsive

Bainbridge-Ropers syndrome

Gén.28 July 2026
5/10

Truncated ASXL3 alters chromatin accessibility and epigenetic landscape in Bainbridge-Ropers syndrome suggesting a gain-of-function etiology

Bainbridge-Ropers syndrome

Gén.11 August 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.

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