Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.V277M
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TPP1

NM_000391.4:p.V277M

Associated Papers

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Gardner E et al.

Human Mutation, 2019

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

Walus M et al.

Human Mutation, 2010

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

Pal A et al.

The Journal of Biological Chemistry, 2009

Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.

Guhaniyogi J et al.

The Journal of Biological Chemistry, 2009

19038967 (PubMed )
Supplement: M806943200_1.pdf

Tripeptidyl-peptidase I in health and disease.

Golabek AA et al.

Biological Chemistry, 2006

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.

Ju W et al.

Journal of Medical Genetics, 2002

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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."