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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
Familial Hypercholesterolemia (PCSK9) Elevated levels of blood lipids Autosomal Dominant 1p32.3 Missense PCSK9 314G>A Arg105Gln Amino acid substitution 0/Ahmed et al., 2013
Familial Hypercholesterolemia (PCSK9) Elevated levels of blood lipids Autosomal Dominant 1p32.3 Missense PCSK9 464C>T Pro155Leu Amino acid substitution 0/Ahmed et al., 2013