Cerebroretinal Microangiopathy with Calcifications and Cysts 3 (CRMCC3)

Alias:
Crmcc3
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
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Cerebroretinal Microangiopathy with Calcifications and Cysts 3(crmcc3)也被称为Cerebroretinal Microangiopathy with Calcifications and Cysts 3。与Cerebroretinal Microangiopathy with Calcifications and Cysts 3相关的基因是POT1(Protection Of Telomeres 1)。相关表型包括脑钙化和无语言能力。
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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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1
15
1

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

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PMID
Journal
Year
IF
No Data Found!
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