Matches in SemOpenAlex for { <https://semopenalex.org/work/W1995126579> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W1995126579 endingPage "434" @default.
- W1995126579 startingPage "429" @default.
- W1995126579 abstract "Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to current mutation nomenclature guidelines. Given these observations, we developed an online database of TCOF1 mutations in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences (www.genoma.ib.usp.br/TCOF1_database). We also report in this work: 1) results of the first screening for large deletions in TCOF1 by Southern blot in patients without mutation detected by direct sequencing; 2) the identification of the first pathogenic mutation in the newly described exon 6A; and 3) statistical analysis of pathogenic mutations and polymorphism distribution throughout the gene. Hum Mutat 25:429–434, 2005. © 2005 Wiley-Liss, Inc." @default.
- W1995126579 created "2016-06-24" @default.
- W1995126579 creator A5033739891 @default.
- W1995126579 creator A5055117466 @default.
- W1995126579 creator A5070607712 @default.
- W1995126579 creator A5085064324 @default.
- W1995126579 creator A5088735051 @default.
- W1995126579 date "2005-01-01" @default.
- W1995126579 modified "2023-10-17" @default.
- W1995126579 title "TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature" @default.
- W1995126579 cites W1974126638 @default.
- W1995126579 cites W1983629759 @default.
- W1995126579 cites W1983775269 @default.
- W1995126579 cites W1992051589 @default.
- W1995126579 cites W2025648013 @default.
- W1995126579 cites W2032351175 @default.
- W1995126579 cites W2035399864 @default.
- W1995126579 cites W2037458235 @default.
- W1995126579 cites W2049054160 @default.
- W1995126579 cites W2051554846 @default.
- W1995126579 cites W2074756865 @default.
- W1995126579 cites W2074844264 @default.
- W1995126579 cites W2074963264 @default.
- W1995126579 cites W2090431268 @default.
- W1995126579 cites W2106305155 @default.
- W1995126579 cites W2110370758 @default.
- W1995126579 cites W2138473958 @default.
- W1995126579 cites W2140107851 @default.
- W1995126579 cites W2140878851 @default.
- W1995126579 cites W2143255074 @default.
- W1995126579 cites W2145274588 @default.
- W1995126579 cites W2146619587 @default.
- W1995126579 cites W2154290266 @default.
- W1995126579 cites W2159232961 @default.
- W1995126579 cites W2164004777 @default.
- W1995126579 cites W2170959722 @default.
- W1995126579 cites W2322672979 @default.
- W1995126579 doi "https://doi.org/10.1002/humu.20159" @default.
- W1995126579 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15832313" @default.
- W1995126579 hasPublicationYear "2005" @default.
- W1995126579 type Work @default.
- W1995126579 sameAs 1995126579 @default.
- W1995126579 citedByCount "36" @default.
- W1995126579 countsByYear W19951265792012 @default.
- W1995126579 countsByYear W19951265792013 @default.
- W1995126579 countsByYear W19951265792014 @default.
- W1995126579 countsByYear W19951265792015 @default.
- W1995126579 countsByYear W19951265792016 @default.
- W1995126579 countsByYear W19951265792017 @default.
- W1995126579 countsByYear W19951265792019 @default.
- W1995126579 countsByYear W19951265792020 @default.
- W1995126579 countsByYear W19951265792021 @default.
- W1995126579 crossrefType "journal-article" @default.
- W1995126579 hasAuthorship W1995126579A5033739891 @default.
- W1995126579 hasAuthorship W1995126579A5055117466 @default.
- W1995126579 hasAuthorship W1995126579A5070607712 @default.
- W1995126579 hasAuthorship W1995126579A5085064324 @default.
- W1995126579 hasAuthorship W1995126579A5088735051 @default.
- W1995126579 hasConcept C104317684 @default.
- W1995126579 hasConcept C163565370 @default.
- W1995126579 hasConcept C17757408 @default.
- W1995126579 hasConcept C36823959 @default.
- W1995126579 hasConcept C501734568 @default.
- W1995126579 hasConcept C54355233 @default.
- W1995126579 hasConcept C70721500 @default.
- W1995126579 hasConcept C86803240 @default.
- W1995126579 hasConceptScore W1995126579C104317684 @default.
- W1995126579 hasConceptScore W1995126579C163565370 @default.
- W1995126579 hasConceptScore W1995126579C17757408 @default.
- W1995126579 hasConceptScore W1995126579C36823959 @default.
- W1995126579 hasConceptScore W1995126579C501734568 @default.
- W1995126579 hasConceptScore W1995126579C54355233 @default.
- W1995126579 hasConceptScore W1995126579C70721500 @default.
- W1995126579 hasConceptScore W1995126579C86803240 @default.
- W1995126579 hasIssue "5" @default.
- W1995126579 hasLocation W19951265791 @default.
- W1995126579 hasLocation W19951265792 @default.
- W1995126579 hasOpenAccess W1995126579 @default.
- W1995126579 hasPrimaryLocation W19951265791 @default.
- W1995126579 hasRelatedWork W1995126579 @default.
- W1995126579 hasRelatedWork W2347350418 @default.
- W1995126579 hasRelatedWork W2362650105 @default.
- W1995126579 hasRelatedWork W2379570692 @default.
- W1995126579 hasRelatedWork W2406377327 @default.
- W1995126579 hasRelatedWork W2409659357 @default.
- W1995126579 hasRelatedWork W2417766600 @default.
- W1995126579 hasRelatedWork W2419448289 @default.
- W1995126579 hasRelatedWork W2463255931 @default.
- W1995126579 hasRelatedWork W4238358953 @default.
- W1995126579 hasVolume "25" @default.
- W1995126579 isParatext "false" @default.
- W1995126579 isRetracted "false" @default.
- W1995126579 magId "1995126579" @default.
- W1995126579 workType "article" @default.