Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.R117C
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ASTL

NM_001002036.4:p.R117C

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

Novel biallelic ASTL variants are associated with polyspermy and female infertility: A successful live birth following ICSI treatment.

Wu H et al.

Gene, 2023

Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Hsu YC et al.

Cancer Medicine, 2019

30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
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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."