Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S2142fs
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SETX

NM_015046.7:p.S2142fs

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Chen S et al.

Frontiers in Molecular Neuroscience, 2022

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

Catford SR et al.

Reproductive Biomedicine Online, 2019

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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."