A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Issue 1 (9th October 2022)

Record Type:: Journal Article
Title:: A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Issue 1 (9th October 2022)
Main Title:: A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9
Authors:: Shravya, Mangalore S.
Mathew, Mary
Vasudeva, Akhila
Girisha, Katta M.
Nayak, Shalini S.
Abstract:: Abstract :
Is Part Of:: Clinical genetics. Volume 103:Issue 1(2023)
Journal:: Clinical genetics
Issue:: Volume 103:Issue 1(2023)
Issue Display:: Volume 103, Issue 1 (2023)
Year:: 2023
Volume:: 103
Issue:: 1
Issue Sort Value:: 2023-0103-0001-0000
Page Start:: 127
Page End:: 129
Publication Date:: 2022-10-09
Subjects:: Medical genetics -- Periodicals
616.0420
Journal URLs:: http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗
DOI:: 10.1111/cge.14237 ↗
Languages:: English
ISSNs:: 0009-9163
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - 3286.287000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:: 24668.xml