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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
Acanthosis Nigricans IFAN (INSR) Noninflamed,thick,brown-black pigments Autosomal Recessive 19p13.3?p13.2 Missense INSR 659C>T Pro220Leu Amino Acid Substitution 0/Ahmad et al., 2013