Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN12
Variant:p.T111K
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SEPTIN12

NM_144605.5:p.T111K

Associated Papers

Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.

Yao W et al.

Translational Andrology and Urology, 2025

In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.

Ding X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.

Miyamoto T et al.

Journal of Assisted Reproduction and Genetics, 2012

SEPTIN12 genetic variants confer susceptibility to teratozoospermia.

Lin YH et al.

Plos One, 2012

Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.

Miyakawa H et al.

Journal of Andrology, 0

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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."