Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E489G
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BRCA1

NM_007294.4:p.E489G

Associated Papers

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM3_ESM.xlsx › Sheet1

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2

The impact of pharmacogenetics on radiation therapy outcome in cancer patients. A focus on DNA damage response genes.

Borchiellini D et al.

Cancer Treatment Reviews, 2012

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K et al.

Genes, Chromosomes & Cancer, 2006

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM et al.

Human Mutation, 2000

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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."