Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S3231fs
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BRCA2

NM_000059.4:p.S3231fs

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2025

The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.

Witham M et al.

Nar Molecular Medicine, 2024

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 2023

A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.

Pan Y et al.

Molecular Genetics and Genomics : Mgg, 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2020

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

França MM et al.

Journal of the Endocrine Society, 2020

Essential Role of BRCA2 in Ovarian Development and Function.

Weinberg-Shukron A et al.

The New England Journal of Medicine, 2018

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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."