Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.V278M
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SMARCD1

NM_003076.5:p.V278M

Associated Papers

BAF60a-dependent chromatin remodeling preserves β cell function and contributes to the therapeutic benefits of GLP-1R agonists.

Qiu X et al.

The Journal of Clinical Investigation, 2025

41052246 (PubMed )
Supplement: jci-135-177980-s312.pdf

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

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
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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."