Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1
Variant:p.S77_F78delFs
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SHOC1

NM_001378211.1:p.S77_F78delFs

Associated Papers

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST6

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

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.

Xie C et al.

Human Reproduction Update, 2022

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."