Varaico: Literature-Extracted Genetic Variants

Gene:SMARCC1
Variant:p.I187T
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SMARCC1

NM_003074.4:p.I187T

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

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Soares de Lima Y et al.

Cancers, 2021

33672345 (PubMed )
Supplement: cancers-13-00929-s001.zip › Soares_de_Lima_et_al_Supplementary_material.pdf

Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma.

Bellini A et al.

International Journal of Cancer, 2019

31018240 (PubMed )
Supplement: IJC-145-2781-s002.xlsx › Table_S3
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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."