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Data Management
author
diagnosis
mutation
symptom
lab finding
diet/drug
therapy/development
picture
reference
{name}
Mutation analysis for
...
Diagnosis:
{name}
Search for a diagnosis e.g.
PHENYLKETONURIA
PatID
Gene name
Genotype
Trivial name
Systematic name
Amino acid change
Nucleotide change
Exon/Intron Boundary/Promotor
{patid}
{phenotype}
{genotype}
{tn}
{sn}
{acc}
{nc}
{exon}
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