Varaico: Literature-Extracted Genetic Variants

Gene:AKAP4
Variant:p.R429H
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AKAP4

NM_003886.3:p.R429H

Associated Papers

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

X-chromosome association study reveals genetic susceptibility loci of hypospadias in southern Chinese population.

Liu Y et al.

World Journal of Urology, 2025

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 › ST4

A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in humans and mice.

Wei H et al.

Clinical and Translational Medicine, 2023

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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."