Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.M124L
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UCHL1

NM_004181.5:p.M124L

Associated Papers

Impact of gene mutation in the development of Parkinson's disease.

Selvaraj S et al.

Genes & Diseases, 2019

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653

UCHL1 is a Parkinson's disease susceptibility gene.

Maraganore DM et al.

Annals of Neurology, 2004

Linkage exclusion in French families with probable Parkinson' s disease.

Farrer M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2000

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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."