Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation. Issue 8 (24th June 2014)
- Record Type:
- Journal Article
- Title:
- Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation. Issue 8 (24th June 2014)
- Main Title:
- Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation
- Authors:
- Famiglietti, Maria Livia
Estreicher, Anne
Gos, Arnaud
Bolleman, Jerven
Géhant, Sébastien
Breuza, Lionel
Bridge, Alan
Poux, Sylvain
Redaschi, Nicole
Bougueleret, Lydie
Xenarios, Ioannis
the UniProt Consortium - Abstract:
- <abstract abstract-type="graphical" xml:lang="en" id="humu22594-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>UniProtKB/Swiss‐Prot is a freely accessible, expertly curated knowledgebase that offers reliable information on proteins. This manuscript describes the manual curation ofgenetic variants and diseases. The variant/disease‐specific annotations are presented against the background of current physiological knowledge. This juxtaposition of physiological and pathological data can provide the researchers with a tool to elucidate the mechanisms leading from a molecular defect to a disease phenotype. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pght8nc6rp" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>
- Is Part Of:
- Human mutation. Volume 35:Issue 8(2014:Aug.)
- Journal:
- Human mutation
- Issue:
- Volume 35:Issue 8(2014:Aug.)
- Issue Display:
- Volume 35, Issue 8 (2014)
- Year:
- 2014
- Volume:
- 35
- Issue:
- 8
- Issue Sort Value:
- 2014-0035-0008-0000
- Page Start:
- 927
- Page End:
- 935
- Publication Date:
- 2014-06-24
- Subjects:
- Human chromosome abnormalities -- Periodicals
Mutation (Biology) -- Periodicals
616.04205 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/humu.22594 ↗
- Languages:
- English
- ISSNs:
- 1059-7794
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 4336.217000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 4167.xml