FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2019637507> ?p ?o ?g. }

• W2019637507 endingPage "847" @default.
• W2019637507 startingPage "842" @default.
• W2019637507 abstract "Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene, which leads to the development of a variety of benign and malignant tumors, especially central nervous system hemangioblastomas, retinal angiomas, clear-cell renal cell carcinomas and pheochromocytomas, with age-dependent penetrance. To date, nearly 400 germline mutations have been found to be involved in VHL disease according to the public Human Gene Mutation Database (HGMD). Although most index cases have a positive family history of VHL, some do not and may represent de novo cases. Patients diagnosed without family histories of VHL have been reported in as many as 23% of affected individuals with VHL. In this paper, we report the presence of a heterozygous deletion mutation of c.227_229delTCT in the VHL gene, causing the deletion of phenylalanine at codon 76 (p.Phe76del) of the VHL protein in a patient with sporadic VHL with a benign prognosis. The mutation involved may be de novo or the seemingly unaffected parent may be mosaic for the disease." @default.
• W2019637507 created "2016-06-24" @default.
• W2019637507 creator A5019687039 @default.
• W2019637507 creator A5034981004 @default.
• W2019637507 creator A5035275013 @default.
• W2019637507 creator A5049361243 @default.
• W2019637507 creator A5056485450 @default.
• W2019637507 creator A5063858269 @default.
• W2019637507 creator A5066716873 @default.
• W2019637507 creator A5085834641 @default.
• W2019637507 creator A5087272196 @default.
• W2019637507 date "2013-06-01" @default.
• W2019637507 modified "2023-09-24" @default.
• W2019637507 title "A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease" @default.
• W2019637507 cites W1749022239 @default.
• W2019637507 cites W1895938869 @default.
• W2019637507 cites W1963715553 @default.
• W2019637507 cites W1964779968 @default.
• W2019637507 cites W1971615052 @default.
• W2019637507 cites W1981460911 @default.
• W2019637507 cites W1987974662 @default.
• W2019637507 cites W1991143527 @default.
• W2019637507 cites W2006622472 @default.
• W2019637507 cites W2011499154 @default.
• W2019637507 cites W2011810742 @default.
• W2019637507 cites W2014033787 @default.
• W2019637507 cites W2037137142 @default.
• W2019637507 cites W2037966103 @default.
• W2019637507 cites W2040031153 @default.
• W2019637507 cites W2067324420 @default.
• W2019637507 cites W2068555261 @default.
• W2019637507 cites W2070972481 @default.
• W2019637507 cites W2075706344 @default.
• W2019637507 cites W2097772834 @default.
• W2019637507 cites W2115857023 @default.
• W2019637507 cites W2131637236 @default.
• W2019637507 cites W2144625075 @default.
• W2019637507 cites W2147718842 @default.
• W2019637507 cites W2151360166 @default.
• W2019637507 cites W2169923647 @default.
• W2019637507 cites W2172170481 @default.
• W2019637507 cites W2551569844 @default.
• W2019637507 cites W2616568953 @default.
• W2019637507 doi "https://doi.org/10.1016/j.jocn.2012.06.013" @default.
• W2019637507 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23632291" @default.
• W2019637507 hasPublicationYear "2013" @default.
• W2019637507 type Work @default.
• W2019637507 sameAs 2019637507 @default.
• W2019637507 citedByCount "8" @default.
• W2019637507 countsByYear W20196375072014 @default.
• W2019637507 countsByYear W20196375072015 @default.
• W2019637507 countsByYear W20196375072018 @default.
• W2019637507 countsByYear W20196375072019 @default.
• W2019637507 countsByYear W20196375072022 @default.
• W2019637507 crossrefType "journal-article" @default.
• W2019637507 hasAuthorship W2019637507A5019687039 @default.
• W2019637507 hasAuthorship W2019637507A5034981004 @default.
• W2019637507 hasAuthorship W2019637507A5035275013 @default.
• W2019637507 hasAuthorship W2019637507A5049361243 @default.
• W2019637507 hasAuthorship W2019637507A5056485450 @default.
• W2019637507 hasAuthorship W2019637507A5063858269 @default.
• W2019637507 hasAuthorship W2019637507A5066716873 @default.
• W2019637507 hasAuthorship W2019637507A5085834641 @default.
• W2019637507 hasAuthorship W2019637507A5087272196 @default.
• W2019637507 hasConcept C104317684 @default.
• W2019637507 hasConcept C109825262 @default.
• W2019637507 hasConcept C121608353 @default.
• W2019637507 hasConcept C126322002 @default.
• W2019637507 hasConcept C127716648 @default.
• W2019637507 hasConcept C13514818 @default.
• W2019637507 hasConcept C142724271 @default.
• W2019637507 hasConcept C200544954 @default.
• W2019637507 hasConcept C2778264664 @default.
• W2019637507 hasConcept C2778886567 @default.
• W2019637507 hasConcept C2779134260 @default.
• W2019637507 hasConcept C2779512018 @default.
• W2019637507 hasConcept C2994225774 @default.
• W2019637507 hasConcept C501734568 @default.
• W2019637507 hasConcept C502942594 @default.
• W2019637507 hasConcept C54355233 @default.
• W2019637507 hasConcept C555283112 @default.
• W2019637507 hasConcept C71924100 @default.
• W2019637507 hasConcept C86803240 @default.
• W2019637507 hasConceptScore W2019637507C104317684 @default.
• W2019637507 hasConceptScore W2019637507C109825262 @default.
• W2019637507 hasConceptScore W2019637507C121608353 @default.
• W2019637507 hasConceptScore W2019637507C126322002 @default.
• W2019637507 hasConceptScore W2019637507C127716648 @default.
• W2019637507 hasConceptScore W2019637507C13514818 @default.
• W2019637507 hasConceptScore W2019637507C142724271 @default.
• W2019637507 hasConceptScore W2019637507C200544954 @default.
• W2019637507 hasConceptScore W2019637507C2778264664 @default.
• W2019637507 hasConceptScore W2019637507C2778886567 @default.
• W2019637507 hasConceptScore W2019637507C2779134260 @default.
• W2019637507 hasConceptScore W2019637507C2779512018 @default.
• W2019637507 hasConceptScore W2019637507C2994225774 @default.
• W2019637507 hasConceptScore W2019637507C501734568 @default.
• W2019637507 hasConceptScore W2019637507C502942594 @default.

• next