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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
Obesity (LEP) Obese Autosomal Recessive 7q32.1 Missense LEP Asn103Lys Amino Acid Substitution 0/Shabana et al., 2016
Obesity (LEP) obese Autosomal Recessive 7q32.1 Deletion LEP 133Gdel Frame shift mutation 0/Gibson et al., 2004