Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1
Variant:p.D488delFs
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SHOC1

NM_001378211.1:p.D488delFs

Associated Papers

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes.

Rotte N et al.

Embo Molecular Medicine, 2025

40374915 (PubMed )
Supplement: 44321_2025_244_MOESM2_ESM.pdf

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

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 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."