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Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability.

Authors :
Mattioli, Francesca
Isidor, Bertrand
Abdul-Rahman, Omar
Gunter, Andrew
Huang, Lijia
Kumar, Raman
Beaulieu, Chandree
Gecz, Jozef
Innes, Micheil
Mandel, Jean-Louis
Piton, Amélie
Source :
Human Molecular Genetics; 3/15/2019, Vol. 28 Issue 6, p952-960, 9p
Publication Year :
2019

Details

Language :
English
ISSN :
09646906
Volume :
28
Issue :
6
Database :
Complementary Index
Journal :
Human Molecular Genetics
Publication Type :
Academic Journal
Accession number :
135108647
Full Text :
https://doi.org/10.1093/hmg/ddy391