Varaico: Literature-Extracted Genetic Variants

Gene:PATL2
Variant:p.Q292_D293Splc
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PATL2

NM_001387263.1:p.Q292_D293Splc

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

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

Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.

Zhou L et al.

Clinical Genetics, 2024

Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.

Liu Z 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

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

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

Zhu L et al.

Frontiers in Endocrinology, 2022

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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."