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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 2 (STUT2,GNPTAB) non-syndromic stuttering 12q 0/Raza et al., 2005
Stuttering Familial Persistent 3 (STUT3) non-syndromic stuttering Autosomal Recessive 3q13.2?3q13.33 0/Raza et al., 2010