Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S382R
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TPP1

NM_000391.4:p.S382R

Associated Papers

A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis.

K P et al.

Metabolic Brain Disease, 2024

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

Gardner E et al.

Human Mutation, 2019

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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