Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.Q74P
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AR

NM_000044.6:p.Q74P

Associated Papers

Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria.

Tsuboi Y et al.

Journal of Movement Disorders, 2021

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.

Mylvaganam S et al.

Current Neuropharmacology, 2021

Establishing diagnostic criteria for Perry syndrome.

Mishima T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.

Lipka J et al.

Biochemical Society Transactions, 2013

Dynactin mutations and promises for neurodegenerative pathology.

Stein RA

Clinical Genetics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."