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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
Stuttering Familial Persistent (NAGPA) non-syndromic stuttering 16p13.3 Missense NAGPA 1319G>C Gly440Ala Amino Acid Substitution 0/Raza et al., 2016