Angelman Syndrome Due to a Point Mutation
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Angelman Syndrome Due to a Point Mutation An important gene associated with Angelman Syndrome Due to a Point Mutation is UBE3A (Ubiquitin Protein Ligase E3A). Affiliated tissues include tongue and skin, and related phenotypes are seizure and eeg abnormality
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Basic Information
Inheritance
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Prevalence
Related Gene
Related Models
Reference
MALACARDS
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Infant
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1
15
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Medical Symptom
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Gene & Mutation
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MGI
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Comparison
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