Varaico: Literature-Extracted Genetic Variants

Gene:PRSS3
Variant:p.E82K
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PRSS3

NM_002771.4:p.E82K

Associated Papers

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-038-ip

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10492.xls › SNVIndel

Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis.

Jan RM et al.

Frontiers in Medicine, 2023

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Awotoye W et al.

Scientific Reports, 2022

35817949 (PubMed )
Supplement: 41598_2022_15885_MOESM1_ESM.pdf

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
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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."