Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.R447P
Back to variants list

TPP1

NM_000391.4:p.R447P

Associated Papers

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Majethia P et al.

Clinical Genetics, 2024

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

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."