Varaico: Literature-Extracted Genetic Variants

Gene:IQCN
Variant:p.R1125H
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IQCN

NM_001145304.2:p.R1125H

Associated Papers

Biallelic mutations in IQCN, encoding a novel acroplaxome protein, lead to fertilization failure and male infertility with defects in the acrosome and shaping of the spermatid head in humans and mice.

Sha Y et al.

Life 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."