Varaico: Literature-Extracted Genetic Variants

Gene:PATL2
Variant:p.Q300*
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PATL2

NM_001387263.1:p.Q300*

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

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

The Recurrent Mutation in PATL2 Inhibits Its Degradation Thus Causing Female Infertility Characterized by Oocyte Maturation Defect Through Regulation of the Mos-MAPK Pathway.

Cao Q et al.

Frontiers in Cell and Developmental Biology, 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."