Varaico: Literature-Extracted Genetic Variants

Gene:MYCBPAP
Variant:p.R824W
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MYCBPAP

NM_032133.6:p.R824W

Associated Papers

Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.

Zhou Y et al.

Science China. Life Sciences, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS06_het
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