http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2018215515-A1
Outgoing Links
Predicate | Object |
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assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_892c32b2a87ebf4943228911801a9e80 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_73e1811d43cc130de2daafc08fecf8eb http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_43a72884e25aaecffebe0942132d704f |
classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6876 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate | 2018-05-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_54bedc4900fbf1fd17d337b74b482ad5 |
publicationDate | 2018-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | WO-2018215515-A1 |
titleOfInvention | Methods for identifying whether a subject has or is at risk of having pancreatitis |
abstract | Pancreatitis is inflammation of the pancreas. Establishing the diagnosis and cause of pancreatitis relies on medical history, family history, and/or molecular genetic testing, which can be either single-gene (monogenic) testing or use of a multi-gene panel. A "loss-of-function" common pathogenic variant in a SPINK 1 enhancer was described as increasing pancreatitis risk. By browsing the Short Genetic Variations database (dbSNP), the inventors searched for other common variants located in this enhancer and found only one "loss-of-function" common variant (i.e. rs7727286T>C) with a frequency higher than 0.01 in. Its highest allele frequency is observed in African population, in which more than 7 % of the individuals are carrying at least one rs7727286C allele. Determining the presence of said variant (egg. a TaqMan assay) is thus suitable for identifying a subject having or at risk of having pancreatitis. |
isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-7137520-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2022140380-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2020178539-A |
priorityDate | 2017-05-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 140.