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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
Chronic Suppurative Otitis Media (CSOM) Hearing loss, Tympanosclerosis, TM perforation 3p21.31 Substitution BSN c.1867C>T p.(Pro623Ser) Misense Yousaf et al.,/2024
Chronic Suppurative Otitis Media (CSOM) Hearing loss, Tympanosclerosis, TM perforation 3p21.31 Substitution BSN c.11015G>A p.(Arg3672Gln) Misense Yousaf et al.,/2024