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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
Cardiac conduction disease (TNNI3K) Cardiac conduction disease with or without dilated cardiomyopathy Autosomal Dominant 1p31.1 Substitution TNNI3K c.1531T>C p.Ser511Pro Missense Ramzan et al., 2021/2021