Varaico: Literature-Extracted Genetic Variants

Gene:SMARCC2
Variant:p.P77L
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SMARCC2

NM_001330288.2:p.P77L

Associated Papers

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Ou S et al.

Molecular Genetics & Genomic Medicine, 2026

41532374 (PubMed )
Supplement: MGG3-14-e70198-s001.xlsx › Table_S1

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Bosch E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
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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."