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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Rare Disease
Duarte Variant Galactosemia
Alias:
Duarte Galactosemia
Galactosemia, Duarte Variant
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Duarte Variant Galactosemia, also known as duarte galactosemia, is related to galactosemia i and amed syndrome, digenic.
Related ID:
MALACARDS:DRT002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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16
DRT002
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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Year
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