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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
Hearing Impairment 74 (DFNB74, MSRB3) Prelingual hearing impairment Autosomal Recessive 12q14.2-q15 Missense MSRB3 20T>G Leu7Arg Amino Acid Substitution 0/Shafique et al., 2014