Varaico: Literature-Extracted Genetic Variants

Gene:PANX1
Variant:p.S238P
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PANX1

NM_015368.4:p.S238P

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

A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.

Zhou J et al.

Journal of Assisted Reproduction and Genetics, 2023

A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility.

Wu XW et al.

Journal of Assisted Reproduction and Genetics, 2022

Homozygous variants in PANX1 cause human oocyte death and female infertility.

Wang W et al.

European Journal of Human Genetics : Ejhg, 2021

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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."