Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.R208Q
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TPP1

NM_000391.4:p.R208Q

Associated Papers

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

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Luo S et al.

Frontiers in Genetics, 2020

Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.

Ge L et al.

Journal of Child Neurology, 2018

Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres.

Cantara S et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

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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."