Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.T54I
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DCTN1

NM_004082.5:p.T54I

Associated Papers

Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.

Tacik P et al.

The New Zealand Medical Journal, 2020

Establishing diagnostic criteria for Perry syndrome.

Mishima T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Konno T et al.

Parkinsonism & Related Disorders, 2017

Defining neurodegeneration on Guam by targeted genomic sequencing.

Steele JC et al.

Annals of Neurology, 2015

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