Varaico: Literature-Extracted Genetic Variants

Gene:ZSWIM7
Variant:p.C78fs
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ZSWIM7

NM_001042697.2:p.C78fs

Associated Papers

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development.

Christofolini DM et al.

American Journal of Medical Genetics. Part A, 2025

Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.

Vogt EC et al.

Human Reproduction (oxford, England), 2024

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

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.

Yatsenko SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

McGlacken-Byrne SM et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.

Li Y et al.

Human Reproduction (oxford, England), 2021

A genomics approach to male infertility.

Alhathal N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.

Spier I et al.

Familial Cancer, 2016

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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."