Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.R1448Q
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SPAG17

NM_206996.4:p.R1448Q

Associated Papers

Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.

Wang X et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.

Liu T et al.

Asian Journal of Andrology, 2025

Case Report: A homozygous mutation in the SPAG17 gene in a case with oligoasthenoteratozoospermic infertility.

Sethi S et al.

Frontiers in Reproductive Health, 2025

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

Ascari G et al.

Human Mutation, 2020

Two Insertion/Deletion Variants within SPAG17 Gene Are Associated with Goat Body Measurement Traits.

Zhang S et al.

Animals : an Open Access Journal From Mdpi, 2019

SPAG17 Is Required for Male Germ Cell Differentiation and Fertility.

Kazarian E et al.

International Journal of Molecular Sciences, 2018

A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Robay A et al.

Arab Journal of Urology, 2018

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.

Xu X et al.

Clinical Genetics, 2018

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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."