Varaico: Literature-Extracted Genetic Variants

Gene:C14orf39
Variant:p.Q393_A394Splc
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C14orf39

NM_174978.3:p.Q393_A394Splc

Associated Papers

Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.

Li K et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

41168986 (PubMed )
Supplement: ADVS-13-e15512-s002.pdf

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.

Xie C et al.

Human Reproduction Update, 2022

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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