Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R71Splc
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BRCA1

NM_007294.4:p.R71Splc

Associated Papers

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2

Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.

Žilovič D et al.

Cancers, 2023

36765826 (PubMed )
Supplement: cancers-15-00868-s001.zip › cancers-2125909-supplementary.pdf

Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

Hata C et al.

Journal of Human Genetics, 2020

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2
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