Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.L2453_L2454del2
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DNHD1

NM_144666.3:p.L2453_L2454del2

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

39872118 (PubMed )
Supplement: lnac050_suppl_Supplementary_Material.docx
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