Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.H186L
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ASTL

NM_001002036.4:p.H186L

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

Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.

Xie S et al.

Journal of Assisted Reproduction and Genetics, 2025

Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.

Zeng Y et al.

Human Molecular 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."