Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1287K
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BRCA1

NM_007294.4:p.E1287K

Associated Papers

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Huang X et al.

Orphanet Journal of Rare Diseases, 2022

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

BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.

Biswas K et al.

Nature Communications, 2018

29416040 (PubMed )
Supplement: 41467_2018_3020_MOESM1_ESM.pdf
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