Varaico: Literature-Extracted Genetic Variants

Gene:PABPC1L
Variant:p.R374Q
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PABPC1L

NM_001372179.1:p.R374Q

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

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

Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.

Wang W et al.

Embo Molecular Medicine, 2023

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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."