Varaico: Literature-Extracted Genetic Variants

Gene:PABPC1L
Variant:p.A346V
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PABPC1L

NM_001372179.1:p.A346V

Associated Papers

Novel variants in PABPC1L cause female infertility due to oocyte maturation defects.

Pan Z et al.

Journal of Assisted Reproduction and Genetics, 2026

Advances in monogenic female infertility.

Gu H et al.

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

Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.

Okutman O et al.

Journal of Assisted Reproduction and Genetics, 2024

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