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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
APECED Syndrome(AIRE) chronic bronchopneumopathy,vitiligo Autosomal Recessive disorder 21q22.3 NLS mutation AIRE 396G>C Arg132Ser Frame Shift Mutation M Pellegrino et.al.,,2018/