Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1
Variant:p.I231_E232del2
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SHOC1

NM_173521.5:p.I231_E232del2

Associated Papers

Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency.

Qi Y et al.

Clinical Genetics, 2023

Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.

Wang W et al.

Molecular Human Reproduction, 2022

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.

Yao C et al.

Journal of Medical Genetics, 2021

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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."