Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.R150W
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SMARCD2

NM_001098426.2:p.R150W

Associated Papers

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506
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