Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.R1191H
Back to variants list

GNPTAB

NM_024312.5:p.R1191H

Associated Papers

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

Raza MH et al.

European Journal of Human Genetics : Ejhg, 2016

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Han TU et al.

Neurobiology of Disease, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."