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Full Name
Email Address
Phone Number
Physical Address
Date Of Installation
Time Of Installation
Details Of Syndromic Child Disease
Disease Name
phenotype
Inheritance Mode
Chr Location
Mutation Type
Gene Name
mRNA Variant
Protein Variant
Effect
Reference
Jeune syndrome (ATD)
Asphyxiating thoracic dystrophy
Autosomal Recessive
15q13
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Morgan et al., 2003/2003
