WebbPRSS1 c.365G>A (p.Arg122His) was included for the purposes of comparison. Discussion. We have recently demonstrated marked ethnic differences in genetic predisposition to CP between Han Chinese and European populations in the context of three pancreatitis susceptibility loci, ... WebbCeGaT GmbH Paul-Ehrlich-Str. 23 72076 Tübingen Germany Phone +49 7071 565 44-55 Fax +49 7071 565 44-56 [email protected] www.cegat.com
Scale and Scope of Gene-Alcohol Interactions in Chronic …
WebbObjectives: It is well documented that mutations in the cationic trypsinogen (PRSS1) gene can cause hereditary pancreatitis. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) and the serine protease inhibitor Kazal type 1 (SPINK1) genes are also associated with pancreatitis. Methods: Webbc.365G>A (p.Arg122His)7 — in ACP patients, NACP patients and controls,8-19 although sample sizes were quite small in most studies. Meta-analysis of the corresponding data … dilog conax kortinlukija
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WebbClinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), … WebbVariant summary: PRSS1 c.365G>A (p.Arg122His) results in a non-conservative amino acid change located in the Serine proteases, ... at codon 122 of the PRSS1 protein (p.Arg122His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the … WebbDownload scientific diagram Paired OR ACP and OR NACP values of the included PRSS1, SPINK1 and CTRC variants. from publication: Scale and Scope of Gene-Alcohol … dilo project management