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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
Nail Dysplasia Type 10 (NDNC-10, FZD6) Claw-like Nails Autosomal Recessive 8q22.3 Missense FZD6 1531C>T Arg511Cys Amino Acid Substitution 2011/Fr?jmark e al., 2011
Nail Dysplasia Type 10 (NDNC-10, FZD6) Claw-like Nails Autosomal Recessive 8q22.3 Nonsense FZD6 1750G>T Glu584* Premature Termination 2012/Naz et al., 2012
Nail Dysplasia Type 10 (NDNC-10, FZD6) Claw-like Nails Autosomal Recessive 8q22.3 Missense FZD6 1266G>A Gly422Asp Amino Acid Substitution 2013/Raza et al., 2013
Nail Dysplasia Type 10 (NDNC-10, FZD6) Claw-like Nails Autosomal Recessive 8q22.3 Missense FZD6 1265G>A p.Gly422Asp Amino Acid Substitution 0/Kasparis et al., 2016