Varaico: Literature-Extracted Genetic Variants

Gene:PRSS3
Variant:p.R122H
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PRSS3

NM_002771.4:p.R122H

Associated Papers

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases.

Nichols AC et al.

Case Reports in Oncological Medicine, 2013

23653877 (PubMed )
Supplement: 270362.f1.xls › SNV

High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.

Lee YJ et al.

Journal of Pediatric Gastroenterology and Nutrition, 2011

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Teich N et al.

Human Mutation, 2006

Trypsinogen mutations in pancreatic disorders.

Vitone LJ et al.

Endocrinology and Metabolism Clinics of North America, 2006

Interchromosomal segmental duplications explain the unusual structure of PRSS3, the gene for an inhibitor-resistant trypsinogen.

Rowen L et al.

Molecular Biology and Evolution, 2005

[A case of chronic pancreatitis in a young woman with the cationic trypsinogen (PRSS1) gene mutation].

Kakinoki K et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2002

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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."