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Full Name
Email Address
Phone Number
Physical Address
Date Of Installation
Time Of Installation
Details Of NON Syndromic Child Disease
Disease Name
phenotype
Inheritance Mode
Chr Location
Mutation Type
Gene Name
mRNA Variant
Protein Variant
Effect
Reference
Nephronophthisis (NPHP3)
ciliopathy
Autosomal Recessive
3q22.1
Nonsense
NPHP3
424C>T
Arg142*
PTC
0/Abdullah et al., 2017
