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Syndromic
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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(ARL13B)
NPHP
Autosomal Recessive
2q13
Substitution
ARL13B
c.1169G>A
p.R390L
Missense
Otto et al., 2011/2011
