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Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex
Author(s) -
HoogeveenWesterveld Marianne,
Ekong Rosemary,
Povey Sue,
Mayer Karin,
Lannoy Nathalie,
Elmslie Frances,
Bebin Martina,
Dies Kira,
Thompson Catherine,
Sparagana Steven P.,
Davies Peter,
van Eeghen Agnies M.,
Thiele Elizabeth A.,
van den Ouweland Ans,
Halley Dicky,
Nellist Mark
Publication year - 2013
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22256
Subject(s) - regret , tuberous sclerosis , tsc2 , biology , genetics , genealogy , statistics , mathematics , psychology , history , psychiatry , pi3k/akt/mtor pathway , apoptosis