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Syndromic
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Email Address
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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
Usher Syndrome type 1K
Hearing loss, RP
Autosomal Recessive
10p11.21-q21.1
Jaworek et al., 2012/2012
