Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D23Splc
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BRCA2

NM_000059.4:p.D23Splc

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Biallelic BRCA2 variants induce premature ovarian insufficiency by impaired meiotic homologous recombination.

Wu X et al.

Communications Biology, 2025

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s001.pdf

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 › BRCA2

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

BRCA2 in Ovarian Development and Function.

Turchetti D et al.

The New England Journal of Medicine, 2019

BRCA2 in Ovarian Development and Function. Reply.

Zangen D et al.

The New England Journal of Medicine, 2019

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