Cerebellar Ataxia Type 47 (SCA47)

Alias:
Sca47
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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
小脑型共济失调47型,又称sca47,与脊髓小脑型共济失调47型和pum1相关小脑型共济失调有关。与小脑型共济失调47型有关的重要基因是PUM1(Pumilio RNA结合家族成员1)。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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10
76
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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