Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1731_H1732Splc
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BRCA1

NM_007294.4:p.E1731_H1732Splc

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway.

Bodd TL et al.

Journal of Genetic Counseling, 2003

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