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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
Ataxia/Dystonia(SACS) ataxia,muscular atrophy Autosomal Recessive 13q12.12 Frameshift Mutation SACS 9119dupA Asn3040- Lysfs*4 Duplication 0/Manzoor H et.al.,,,2018