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eP120: Predicted frameshift variant in TSC2associated with mild TSC phenotype and non-penetrance

Authors :
Farach, Laura
Au, Kit-Sing
Nellist, Mark
Van Unen, Leontine
Klonowska, Katarzyna
Ekong, Rosemary
Crino, Peter
Northrup, Hope
Source :
Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS75-S76, 2p
Publication Year :
2022

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
24
Issue :
3, Number 3 Supplement 1
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs59203073
Full Text :
https://doi.org/10.1016/j.gim.2022.01.156