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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
Polydactyly Postaxial Type A6 (ZNF141) Postaxial Polydactyly Autosomal Recessive 4p16.3 Missense ZNF141 1420C>T Thr474Ile Amino Acid Substitution 0/Kalsoom et al., 2013