Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.R1446fs
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ASXL3

NM_030632.3:p.R1446fs

Associated Papers

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

Yang Q et al.

Frontiers in Neuroscience, 2025

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

Woods E et al.

Clinical Genetics, 2024

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