Varaico: Literature-Extracted Genetic Variants

Gene:STX2
Variant:p.D3_R4delFs
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STX2

NM_194356.4:p.D3_R4delFs

Associated Papers

A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family.

Fang Q et al.

Journal of Human Genetics, 2024

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

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

STX2 is a causative gene for nonobstructive azoospermia.

Nakamura S et al.

Human Mutation, 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."