Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.V1505fs
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ASXL3

NM_030632.3:p.V1505fs

Associated Papers

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

Peter B et al.

American Journal of Medical Genetics. Part A, 2026

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

Woods E et al.

Clinical Genetics, 2024

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