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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
Myotonia Congenita (CLCN1)
Myotonia congenita
7q34
Substitution
CLCN1
c.2647C>A
p.(Pro883Thr)
Misense
Zafar et al., 2025/2025
