Varaico: Literature-Extracted Genetic Variants

Gene:C14orf39
Variant:p.H68fs
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C14orf39

NM_174978.3:p.H68fs

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 2023

In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.

Ali H et al.

Molecular Genetics and Genomics : Mgg, 2022

Alterations in synaptonemal complex coding genes and human infertility.

Zhang F et al.

International Journal of Biological Sciences, 2022

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.

Fan S et al.

American Journal of Human Genetics, 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."