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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Myoclonic Epilepsy in Non-Progressive Encephalopathies
Alias:
Myoclonus Epilepsy in Non-Progressive Encephalopathies
Myoclonic Status in Non-Progressive Encephalopathies
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
非进行性脑病性肌阵挛性癫痫,也称为非进行性脑病性肌阵挛性癫痫。
Related ID:
MALACARDS:MYC061
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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婴儿期
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--
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MYC061
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
Title
PMID
Journal
Year
IF
No Data Found!
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