Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.L81M
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PRSS1

NM_002769.5:p.L81M

Associated Papers

Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.

Zhang Y et al.

Journal of Clinical Laboratory Analysis, 2022

CALCB splice region pathogenic variants leading to plasma cell neurotropic enrichment in type 1 autoimmune pancreatitis.

Liu QC et al.

Cell Death & Disease, 2017

Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Németh BC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

Multiple gene mutations in patients with type 2 autoimmune pancreatitis and its clinical features.

Dong F et al.

Central-european Journal of Immunology, 2014

PRSS1_p.Leu81Met mutation results in autoimmune pancreatitis.

Gao F et al.

World Journal of Gastroenterology, 2013

Determinants of chymotrypsin C cleavage specificity in the calcium-binding loop of human cationic trypsinogen.

Szabó A et al.

The Febs Journal, 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."