FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023563500> ?p ?o ?g. }

• W2023563500 endingPage "673" @default.
• W2023563500 startingPage "671" @default.
• W2023563500 abstract "Charcot–Marie–Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum." @default.
• W2023563500 created "2016-06-24" @default.
• W2023563500 creator A5000612576 @default.
• W2023563500 creator A5023261072 @default.
• W2023563500 creator A5037749785 @default.
• W2023563500 creator A5057353700 @default.
• W2023563500 creator A5058121685 @default.
• W2023563500 creator A5058160830 @default.
• W2023563500 creator A5059626751 @default.
• W2023563500 creator A5065420361 @default.
• W2023563500 creator A5072413189 @default.
• W2023563500 creator A5075068848 @default.
• W2023563500 creator A5078959602 @default.
• W2023563500 creator A5081940086 @default.
• W2023563500 date "2015-04-17" @default.
• W2023563500 modified "2023-10-16" @default.
• W2023563500 title "Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis" @default.
• W2023563500 cites W1964503142 @default.
• W2023563500 cites W2032806627 @default.
• W2023563500 cites W2103505233 @default.
• W2023563500 cites W2108508332 @default.
• W2023563500 cites W2127204575 @default.
• W2023563500 cites W2157269743 @default.
• W2023563500 doi "https://doi.org/10.1007/s00439-015-1548-3" @default.
• W2023563500 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4426057" @default.
• W2023563500 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25893792" @default.
• W2023563500 hasPublicationYear "2015" @default.
• W2023563500 type Work @default.
• W2023563500 sameAs 2023563500 @default.
• W2023563500 citedByCount "20" @default.
• W2023563500 countsByYear W20235635002015 @default.
• W2023563500 countsByYear W20235635002017 @default.
• W2023563500 countsByYear W20235635002018 @default.
• W2023563500 countsByYear W20235635002019 @default.
• W2023563500 countsByYear W20235635002020 @default.
• W2023563500 countsByYear W20235635002021 @default.
• W2023563500 countsByYear W20235635002022 @default.
• W2023563500 crossrefType "journal-article" @default.
• W2023563500 hasAuthorship W2023563500A5000612576 @default.
• W2023563500 hasAuthorship W2023563500A5023261072 @default.
• W2023563500 hasAuthorship W2023563500A5037749785 @default.
• W2023563500 hasAuthorship W2023563500A5057353700 @default.
• W2023563500 hasAuthorship W2023563500A5058121685 @default.
• W2023563500 hasAuthorship W2023563500A5058160830 @default.
• W2023563500 hasAuthorship W2023563500A5059626751 @default.
• W2023563500 hasAuthorship W2023563500A5065420361 @default.
• W2023563500 hasAuthorship W2023563500A5072413189 @default.
• W2023563500 hasAuthorship W2023563500A5075068848 @default.
• W2023563500 hasAuthorship W2023563500A5078959602 @default.
• W2023563500 hasAuthorship W2023563500A5081940086 @default.
• W2023563500 hasBestOaLocation W20235635002 @default.
• W2023563500 hasConcept C104317684 @default.
• W2023563500 hasConcept C10590036 @default.
• W2023563500 hasConcept C127716648 @default.
• W2023563500 hasConcept C134018914 @default.
• W2023563500 hasConcept C141071460 @default.
• W2023563500 hasConcept C16671776 @default.
• W2023563500 hasConcept C2779618896 @default.
• W2023563500 hasConcept C2779632786 @default.
• W2023563500 hasConcept C2779901536 @default.
• W2023563500 hasConcept C2781079905 @default.
• W2023563500 hasConcept C29906990 @default.
• W2023563500 hasConcept C501734568 @default.
• W2023563500 hasConcept C54355233 @default.
• W2023563500 hasConcept C555293320 @default.
• W2023563500 hasConcept C71924100 @default.
• W2023563500 hasConcept C75563809 @default.
• W2023563500 hasConcept C86803240 @default.
• W2023563500 hasConceptScore W2023563500C104317684 @default.
• W2023563500 hasConceptScore W2023563500C10590036 @default.
• W2023563500 hasConceptScore W2023563500C127716648 @default.
• W2023563500 hasConceptScore W2023563500C134018914 @default.
• W2023563500 hasConceptScore W2023563500C141071460 @default.
• W2023563500 hasConceptScore W2023563500C16671776 @default.
• W2023563500 hasConceptScore W2023563500C2779618896 @default.
• W2023563500 hasConceptScore W2023563500C2779632786 @default.
• W2023563500 hasConceptScore W2023563500C2779901536 @default.
• W2023563500 hasConceptScore W2023563500C2781079905 @default.
• W2023563500 hasConceptScore W2023563500C29906990 @default.
• W2023563500 hasConceptScore W2023563500C501734568 @default.
• W2023563500 hasConceptScore W2023563500C54355233 @default.
• W2023563500 hasConceptScore W2023563500C555293320 @default.
• W2023563500 hasConceptScore W2023563500C71924100 @default.
• W2023563500 hasConceptScore W2023563500C75563809 @default.
• W2023563500 hasConceptScore W2023563500C86803240 @default.
• W2023563500 hasIssue "6" @default.
• W2023563500 hasLocation W20235635001 @default.
• W2023563500 hasLocation W20235635002 @default.
• W2023563500 hasLocation W20235635003 @default.
• W2023563500 hasLocation W20235635004 @default.
• W2023563500 hasOpenAccess W2023563500 @default.
• W2023563500 hasPrimaryLocation W20235635001 @default.
• W2023563500 hasRelatedWork W1581651310 @default.
• W2023563500 hasRelatedWork W1979176079 @default.
• W2023563500 hasRelatedWork W2079236421 @default.
• W2023563500 hasRelatedWork W2159173718 @default.
• W2023563500 hasRelatedWork W2162724184 @default.
• W2023563500 hasRelatedWork W2224157968 @default.

• next