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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
Neuromuscular disorder (SPEN)
Autosomal Dominant
1p36.21-p36.13
Deletion
SPEN
c.351_356del
Aleem et al., 2025/2025
