Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene

Alias:
Retinal Ciliopathy Due to Mutation in Rp1 Gene
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene, also known as retinal ciliopathy due to mutation in rp1 gene, is related to joubert syndrome with jeune asphyxiating thoracic dystrophy and asphyxiating thoracic dystrophy. An important gene associated with Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene is IFT140 (Intraflagellar Transport 140).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
8
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Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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