Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.P17T
Back to variants list

PRSS1

NM_002769.5:p.P17T

Associated Papers

Expanding ACMG variant classification guidelines into a general framework.

Masson E et al.

Human Genomics, 2022

Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.

Sahin-Tóth M

Pancreas, 2022

Evolutionary expansion of polyaspartate motif in the activation peptide of mouse cationic trypsinogen limits autoactivation and protects against pancreatitis.

Orekhova A et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.

Jancsó Z et al.

Frontiers in Genetics, 2019

Novel PRSS1 Mutation p.P17T Validates Pathogenic Relevance of CTRC-Mediated Processing of the Trypsinogen Activation Peptide in Chronic Pancreatitis.

Németh BC et al.

The American Journal of Gastroenterology, 2017

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."