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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
Exostoses Multiple Type 1 (EXT1) Cartilage-capped exostoses formation Autosomal Dominant 8q24.1 Insertion EXT1 1664_1665InsA Frame shift mutation & PTC 0/Faiyaz-Ul-Haque et al., 2004
Exostoses Multiple Type 1 (EXT1) Cartilage-capped exostoses formation Autosomal Dominant 8q24.1 Splice site EXT1 AGAAgtaag > AGAActaag Frame shift mutation & PTC 0/Faiyaz-Ul-Haque et al., 2004