Varaico: Literature-Extracted Genetic Variants

Gene:SIN3A
Variant:p.A780delFs
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SIN3A

NM_001145358.2:p.A780delFs

Associated Papers

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.

Yilmaz M et al.

Molecular Syndromology, 2025

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Balasubramanian M et al.

European Journal of Human Genetics : Ejhg, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."