Ataxia-Oculomotor Apraxia 3 (AOA3)

Alias:
Ataxia with Oculomotor Apraxia Type 3
Aoa3
Ataxia-Oculomotor Apraxia, Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ataxia-Oculomotor Apraxia 3, also known as ataxia with oculomotor apraxia type 3, is related to ataxia-telangiectasia and oculomotor apraxia, and has symptoms including ataxia An important gene associated with Ataxia-Oculomotor Apraxia 3 is PIK3R5 (Phosphoinositide-3-Kinase Regulatory Subunit 5), and among its related pathways/superpathways is DNA-PK pathway in nonhomologous end joining. Affiliated tissues include eye, and related phenotypes are ataxia and dysarthria
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Basic Information

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Reference
MALACARDS
AR
Unknown
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6
36
1

Medical Symptom

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Gene & Mutation

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References Literature

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