Varaico: Literature-Extracted Genetic Variants

Gene:PATL2
Variant:p.V260M
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PATL2

NM_001387263.1:p.V260M

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Hu HY et al.

Journal of Assisted Reproduction and Genetics, 2024

High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.

Zhou H et al.

Frontiers in Genetics, 2023

Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest.

Sun L et al.

Frontiers in Genetics, 2022

Meiosis interrupted: the genetics of female infertility via meiotic failure.

Biswas L et al.

Reproduction (cambridge, England), 2021

Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.

Wu L et al.

Journal of Human Genetics, 2019

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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."