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
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder.
Li M et al.
Orphanet Journal of Rare Diseases, 2025
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
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