Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD31
Variant:p.G522Splc
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ANKRD31

NM_001372053.1:p.G522Splc

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

Essential roles of the ANKRD31-REC114 interaction in meiotic recombination and mouse spermatogenesis.

Xu J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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

Ding X et al.

Journal of Ovarian Research, 2023

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

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency.

Wang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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