Varaico: Literature-Extracted Genetic Variants

Gene:PATL2
Variant:p.Q269K
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PATL2

NM_001387263.1:p.Q269K

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.

Zhao H et al.

Journal of Assisted Reproduction and Genetics, 2025

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

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

Zhou H et al.

Frontiers in Genetics, 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."