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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Male infertility with oligoasthenoteratozoospermia (CCDC34) Spermatogenic failure 76 Autosomal Recessive 11p14.1 Substitution CCDC34 c.848C>A p.A283E Missense Ahmad et al., 2024/2024