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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
Rheumatoid Arthritis (TLR1) Rheumatoid arthritis Autosomal Recessive 4p14 Substitution TLR1 c.1324T>C p.Cys442>Arg Missense Pasha et al, 2023/2023
Rheumatoid Arthritis (TLR1) Rheumatoid arthritis Autosomal Recessive 4p14 Substitution TLR1 c.2036T>C p.Ile679>Thr Missense Pasha et al, 2023/2023