Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.R116H
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PRSS1

NM_002769.5:p.R116H

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Germline_variants

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s012.xlsx › ______

Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations.

Bertin C et al.

The American Journal of Gastroenterology, 2012

Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis.

Rebours V et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2010

The natural history of hereditary pancreatitis: a national series.

Rebours V et al.

Gut, 2009

Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.

Rebours V et al.

The American Journal of Gastroenterology, 2008

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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."