Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K935insFs
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BRCA1

NM_007294.4:p.K935insFs

Associated Papers

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.

Shaw CA et al.

American Journal of Human Genetics, 2025

40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s007.xlsx › CIMBA

Molecular Characterization of Somatic Alterations in Dukes' B and C Colorectal Cancers by Targeted Sequencing.

Abdul SN et al.

Frontiers in Pharmacology, 2017

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

Cowie S et al.

Human Mutation, 2004

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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."