Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.R1446delFs
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ASXL3

NM_030632.3:p.R1446delFs

Associated Papers

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Trujillano L et al.

Clinical Genetics, 2025

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

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
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