Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1152H
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BRCA1

NM_007294.4:p.D1152H

Associated Papers

Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.

Alzogaray V

Clinical Genetics, 2026

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.

Basel-Salmon L et al.

Genetics in Medicine Open, 2023

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_1.xlsx › Sheet1

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis

Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.

Wang C et al.

Cell Reports, 2018

PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.

Rechitsky S et al.

Reproductive Biomedicine Online, 2013

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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."