Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.G152Splc
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ASTL

NM_001002036.4:p.G152Splc

Associated Papers

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

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

In silico identification and characterization of the SNPs in the human ASTL gene and their probable role in female infertility.

Suri K et al.

Frontiers in Cell and Developmental Biology, 2023

ASTL is mutated in female infertility.

Maddirevula S et al.

Human Genetics, 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."