Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.G71R
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SERPINB6

NM_004568.6:p.G71R

Associated Papers

Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Dulski J et al.

European Journal of Neurology, 2021

Establishing diagnostic criteria for Perry syndrome.

Mishima T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Dynactin mutations and promises for neurodegenerative pathology.

Stein RA

Clinical Genetics, 2009

DCTN1 mutations in Perry syndrome.

Farrer MJ et al.

Nature Genetics, 2009

19136952 (PubMed )
Supplement: NIHMS169662-supplement-supplementary_material.pdf
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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."