Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G424S
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BRCA1

NM_007294.4:p.G424S

Associated Papers

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1

Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers.

Maatough A et al.

Journal of Cellular Biochemistry, 2018

The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.

Rocha RO et al.

Clinical Endocrinology, 2008

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

Pagani F et al.

The Journal of Biological Chemistry, 2003

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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."