Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene. Issue 5 (14th April 2020)

Record Type:: Journal Article
Title:: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene. Issue 5 (14th April 2020)
Main Title:: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene
Authors:: Battistini, Stefania
Ricci, Claudia
Abstract:
Is Part Of:: Human mutation. Volume 41:Issue 5(2020)
Journal:: Human mutation
Issue:: Volume 41:Issue 5(2020)
Issue Display:: Volume 41, Issue 5 (2020)
Year:: 2020
Volume:: 41
Issue:: 5
Issue Sort Value:: 2020-0041-0005-0000
Page Start:: 1069
Page End:: 1071
Publication Date:: 2020-04-14
Subjects:: cerebral cavernous malformations -- functional studies -- in silico analysis -- KRIT1 gene -- splicing variants -- variant interpretation
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.24000 ↗
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:: 13269.xml