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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Authors :
Saad AK
Marafi D
Mitani T
Jolly A
Du H
Elbendary HM
Jhangiani SN
Akdemir ZC
Gibbs RA
Hunter JV
Carvalho CMBC
Pehlivan D
Posey JE
Zaki MS
Lupski JR
Source :
Brain : a journal of neurology [Brain] 2020 Oct 01; Vol. 143 (10), pp. e83.
Publication Year :
2020

Details

Language :
English
ISSN :
1460-2156
Volume :
143
Issue :
10
Database :
MEDLINE
Journal :
Brain : a journal of neurology
Publication Type :
Report
Accession number :
33011761
Full Text :
https://doi.org/10.1093/brain/awaa256