Mitochondrial Dna Depletion Syndrome 16 (MTDPS16)

Alias:
Mtdps16
Mitochondrial Dna Depletion Syndrome 16, Hepatic Type
Mi Dna Depletion Syndrome 16
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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
线粒体DNA耗竭综合症16,也被称为mtdps16。与线粒体DNA耗竭综合症16相关的基因是POLG2(DNA聚合酶伽马2,辅助亚基)。相关组织包括肝脏,相关表型为肝肿大和鼻梁下陷。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
5
2

Medical Symptom

#
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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