FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055947086> ?p ?o ?g. }

• W2055947086 endingPage "1071" @default.
• W2055947086 startingPage "1068" @default.
• W2055947086 abstract "Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T missense variant (p.Arg1809Cys) in six (0.7%) unrelated probands (three familial and three sporadic cases), all exhibiting a mild form of disease. Detailed clinical characterization of these subjects and other eight affected relatives showed that all individuals had multiple cafè-au-lait spots, frequently associated with skinfold freckling, but absence of discrete cutaneous or plexiform neurofibromas, Lisch nodules, typical NF1 osseous lesions or symptomatic optic gliomas. Facial features in half of the individuals were suggestive of Noonan syndrome. Our finding and revision of the literature consistently indicate that the c.5425C>T change is associated with a distinctive, mild form of NF1, providing new data with direct impact on genetic counseling and patient management." @default.
• W2055947086 created "2016-06-24" @default.
• W2055947086 creator A5005731148 @default.
• W2055947086 creator A5009609298 @default.
• W2055947086 creator A5012065316 @default.
• W2055947086 creator A5012180571 @default.
• W2055947086 creator A5016552354 @default.
• W2055947086 creator A5019714453 @default.
• W2055947086 creator A5024051587 @default.
• W2055947086 creator A5025702193 @default.
• W2055947086 creator A5026518362 @default.
• W2055947086 creator A5031979885 @default.
• W2055947086 creator A5035623552 @default.
• W2055947086 creator A5039796625 @default.
• W2055947086 creator A5039877471 @default.
• W2055947086 creator A5047197063 @default.
• W2055947086 creator A5048934823 @default.
• W2055947086 creator A5054375393 @default.
• W2055947086 creator A5071821979 @default.
• W2055947086 creator A5072370257 @default.
• W2055947086 creator A5078958517 @default.
• W2055947086 creator A5085035160 @default.
• W2055947086 creator A5085386809 @default.
• W2055947086 creator A5087118071 @default.
• W2055947086 date "2014-11-05" @default.
• W2055947086 modified "2023-10-09" @default.
• W2055947086 title "p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas" @default.
• W2055947086 cites W1977609219 @default.
• W2055947086 cites W1988846133 @default.
• W2055947086 cites W1993217644 @default.
• W2055947086 cites W1996696794 @default.
• W2055947086 cites W2002268177 @default.
• W2055947086 cites W2034891417 @default.
• W2055947086 cites W2044976670 @default.
• W2055947086 cites W2049181650 @default.
• W2055947086 cites W2062855689 @default.
• W2055947086 cites W2071208412 @default.
• W2055947086 cites W2088004537 @default.
• W2055947086 cites W2126856749 @default.
• W2055947086 cites W2128858154 @default.
• W2055947086 cites W2138616826 @default.
• W2055947086 cites W2163393726 @default.
• W2055947086 cites W4210729786 @default.
• W2055947086 cites W4253368897 @default.
• W2055947086 doi "https://doi.org/10.1038/ejhg.2014.243" @default.
• W2055947086 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4795103" @default.
• W2055947086 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25370043" @default.
• W2055947086 hasPublicationYear "2014" @default.
• W2055947086 type Work @default.
• W2055947086 sameAs 2055947086 @default.
• W2055947086 citedByCount "106" @default.
• W2055947086 countsByYear W20559470862015 @default.
• W2055947086 countsByYear W20559470862016 @default.
• W2055947086 countsByYear W20559470862017 @default.
• W2055947086 countsByYear W20559470862018 @default.
• W2055947086 countsByYear W20559470862019 @default.
• W2055947086 countsByYear W20559470862020 @default.
• W2055947086 countsByYear W20559470862021 @default.
• W2055947086 countsByYear W20559470862022 @default.
• W2055947086 countsByYear W20559470862023 @default.
• W2055947086 crossrefType "journal-article" @default.
• W2055947086 hasAuthorship W2055947086A5005731148 @default.
• W2055947086 hasAuthorship W2055947086A5009609298 @default.
• W2055947086 hasAuthorship W2055947086A5012065316 @default.
• W2055947086 hasAuthorship W2055947086A5012180571 @default.
• W2055947086 hasAuthorship W2055947086A5016552354 @default.
• W2055947086 hasAuthorship W2055947086A5019714453 @default.
• W2055947086 hasAuthorship W2055947086A5024051587 @default.
• W2055947086 hasAuthorship W2055947086A5025702193 @default.
• W2055947086 hasAuthorship W2055947086A5026518362 @default.
• W2055947086 hasAuthorship W2055947086A5031979885 @default.
• W2055947086 hasAuthorship W2055947086A5035623552 @default.
• W2055947086 hasAuthorship W2055947086A5039796625 @default.
• W2055947086 hasAuthorship W2055947086A5039877471 @default.
• W2055947086 hasAuthorship W2055947086A5047197063 @default.
• W2055947086 hasAuthorship W2055947086A5048934823 @default.
• W2055947086 hasAuthorship W2055947086A5054375393 @default.
• W2055947086 hasAuthorship W2055947086A5071821979 @default.
• W2055947086 hasAuthorship W2055947086A5072370257 @default.
• W2055947086 hasAuthorship W2055947086A5078958517 @default.
• W2055947086 hasAuthorship W2055947086A5085035160 @default.
• W2055947086 hasAuthorship W2055947086A5085386809 @default.
• W2055947086 hasAuthorship W2055947086A5087118071 @default.
• W2055947086 hasBestOaLocation W20559470861 @default.
• W2055947086 hasConcept C104317684 @default.
• W2055947086 hasConcept C127716648 @default.
• W2055947086 hasConcept C142724271 @default.
• W2055947086 hasConcept C16005928 @default.
• W2055947086 hasConcept C170932241 @default.
• W2055947086 hasConcept C188997412 @default.
• W2055947086 hasConcept C2778102573 @default.
• W2055947086 hasConcept C2778984943 @default.
• W2055947086 hasConcept C501734568 @default.
• W2055947086 hasConcept C54355233 @default.
• W2055947086 hasConcept C71924100 @default.
• W2055947086 hasConcept C75563809 @default.
• W2055947086 hasConcept C86803240 @default.
• W2055947086 hasConceptScore W2055947086C104317684 @default.

• next