Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K519E
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BRCA1

NM_007294.4:p.K519E

Associated Papers

[Return of Individual Genomic Results to Germline Pathogenic Variant Carriers of Hereditary Cancer in Population Based Cohort Study].

Ohneda K

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2024

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.

Sagong B et al.

Plos One, 2013

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.

Poole JC et al.

Biological Chemistry, 2010

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Ballana E et al.

Human Mutation, 2008

Mitochondrial genetic background modifies breast cancer risk.

Bai RK et al.

Cancer Research, 2007

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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."