FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018596114> ?p ?o ?g. }

• W2018596114 abstract "Mutations in the GJB2 gene account for up to 50% of hereditary nonsyndromic hearing loss in several populations. Over 200 mutations are already described in this gene, and three of them, c.35delG, c.167delT, and c.235delC, are the most frequent in Caucasians, Ashkenazi Jews, and Asians, respectively. Most of GJB2 hearing loss-related mutations are recessive, but a few dominant alleles have also been described. Apart from the clearly pathogenic mutations, there are some other variants whose pathogenicity is still controversial, such as p.Met34Thr, p.Val37Ile, p.Arg127His, and p.Val153Ile. The p.Arg127His allele has been found in some mono- and biallelic hearing-impaired patients from several countries. In this article we report on some Portuguese patients harboring this mutation. Taking into consideration the analysis of these Portuguese cases as well as the genetic and functional data regarding p.Arg127His available in the literature, we conclude that this variant may be a cause of hearing loss depending on environmental factors and/or genetic background." @default.
• W2018596114 created "2016-06-24" @default.
• W2018596114 creator A5000153072 @default.
• W2018596114 creator A5009144876 @default.
• W2018596114 creator A5025214826 @default.
• W2018596114 creator A5025499371 @default.
• W2018596114 creator A5043454424 @default.
• W2018596114 creator A5055561117 @default.
• W2018596114 date "2010-02-01" @default.
• W2018596114 modified "2023-09-25" @default.
• W2018596114 title "The Controversial p.Arg127His Mutation in GJB2: Report on Three Portuguese Hearing Loss Family Cases" @default.
• W2018596114 cites W1526839233 @default.
• W2018596114 cites W1557196716 @default.
• W2018596114 cites W1785765296 @default.
• W2018596114 cites W1988113777 @default.
• W2018596114 cites W2002294956 @default.
• W2018596114 cites W2005947942 @default.
• W2018596114 cites W2027120457 @default.
• W2018596114 cites W2028463048 @default.
• W2018596114 cites W2031336878 @default.
• W2018596114 cites W2034076601 @default.
• W2018596114 cites W2056661909 @default.
• W2018596114 cites W2058087981 @default.
• W2018596114 cites W2061361740 @default.
• W2018596114 cites W2065019964 @default.
• W2018596114 cites W2099129205 @default.
• W2018596114 cites W2101850740 @default.
• W2018596114 cites W2114236462 @default.
• W2018596114 cites W2114713629 @default.
• W2018596114 cites W2118363436 @default.
• W2018596114 cites W2119744081 @default.
• W2018596114 cites W2127296791 @default.
• W2018596114 cites W2145232637 @default.
• W2018596114 cites W2150022531 @default.
• W2018596114 cites W2155946264 @default.
• W2018596114 cites W2158291175 @default.
• W2018596114 cites W2163451904 @default.
• W2018596114 cites W2172033353 @default.
• W2018596114 doi "https://doi.org/10.1089/gtmb.2009.0103" @default.
• W2018596114 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19929408" @default.
• W2018596114 hasPublicationYear "2010" @default.
• W2018596114 type Work @default.
• W2018596114 sameAs 2018596114 @default.
• W2018596114 citedByCount "14" @default.
• W2018596114 countsByYear W20185961142012 @default.
• W2018596114 countsByYear W20185961142013 @default.
• W2018596114 countsByYear W20185961142014 @default.
• W2018596114 countsByYear W20185961142015 @default.
• W2018596114 countsByYear W20185961142016 @default.
• W2018596114 countsByYear W20185961142017 @default.
• W2018596114 crossrefType "journal-article" @default.
• W2018596114 hasAuthorship W2018596114A5000153072 @default.
• W2018596114 hasAuthorship W2018596114A5009144876 @default.
• W2018596114 hasAuthorship W2018596114A5025214826 @default.
• W2018596114 hasAuthorship W2018596114A5025499371 @default.
• W2018596114 hasAuthorship W2018596114A5043454424 @default.
• W2018596114 hasAuthorship W2018596114A5055561117 @default.
• W2018596114 hasConcept C104317684 @default.
• W2018596114 hasConcept C138885662 @default.
• W2018596114 hasConcept C180754005 @default.
• W2018596114 hasConcept C2780493683 @default.
• W2018596114 hasConcept C35219183 @default.
• W2018596114 hasConcept C41895202 @default.
• W2018596114 hasConcept C501734568 @default.
• W2018596114 hasConcept C54355233 @default.
• W2018596114 hasConcept C548259974 @default.
• W2018596114 hasConcept C71924100 @default.
• W2018596114 hasConcept C86803240 @default.
• W2018596114 hasConceptScore W2018596114C104317684 @default.
• W2018596114 hasConceptScore W2018596114C138885662 @default.
• W2018596114 hasConceptScore W2018596114C180754005 @default.
• W2018596114 hasConceptScore W2018596114C2780493683 @default.
• W2018596114 hasConceptScore W2018596114C35219183 @default.
• W2018596114 hasConceptScore W2018596114C41895202 @default.
• W2018596114 hasConceptScore W2018596114C501734568 @default.
• W2018596114 hasConceptScore W2018596114C54355233 @default.
• W2018596114 hasConceptScore W2018596114C548259974 @default.
• W2018596114 hasConceptScore W2018596114C71924100 @default.
• W2018596114 hasConceptScore W2018596114C86803240 @default.
• W2018596114 hasLocation W20185961141 @default.
• W2018596114 hasLocation W20185961142 @default.
• W2018596114 hasOpenAccess W2018596114 @default.
• W2018596114 hasPrimaryLocation W20185961141 @default.
• W2018596114 hasRelatedWork W1482128701 @default.
• W2018596114 hasRelatedWork W1570402945 @default.
• W2018596114 hasRelatedWork W1946715065 @default.
• W2018596114 hasRelatedWork W1970884762 @default.
• W2018596114 hasRelatedWork W1985894024 @default.
• W2018596114 hasRelatedWork W1988803894 @default.
• W2018596114 hasRelatedWork W2008145802 @default.
• W2018596114 hasRelatedWork W2019998356 @default.
• W2018596114 hasRelatedWork W2032045317 @default.
• W2018596114 hasRelatedWork W2043047030 @default.
• W2018596114 hasRelatedWork W2097258094 @default.
• W2018596114 hasRelatedWork W2102324575 @default.
• W2018596114 hasRelatedWork W2107205833 @default.
• W2018596114 hasRelatedWork W2119744081 @default.
• W2018596114 hasRelatedWork W2144704308 @default.
• W2018596114 hasRelatedWork W2146673223 @default.
• W2018596114 hasRelatedWork W2163451904 @default.

• next