Varaico: Literature-Extracted Genetic Variants

Gene:PATL2
Variant:p.R75fs
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PATL2

NM_001387263.1:p.R75fs

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility.

Li H et al.

Frontiers in Genetics, 2025

PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation.

Zhang YL et al.

Cell & Bioscience, 2024

Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.

Zhang J et al.

Journal of Assisted Reproduction and Genetics, 2024

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Hu HY et al.

Journal of Assisted Reproduction and Genetics, 2024

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.

Ye Z et al.

Journal of Assisted Reproduction and Genetics, 2024

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.

Huang L et al.

Journal of Assisted Reproduction and Genetics, 2022

Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.

Zhu L et al.

Frontiers in Endocrinology, 2022

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

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.

Huang L et al.

Human Reproduction (oxford, England), 2018

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

Chen B et al.

American Journal of Human Genetics, 2017

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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."