Open AccesseP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance
Author(s) -
Laura S. Farach,
Kit Sing Au,
Mark Nellist,
Leontine van Unen,
Katarzyna Klonowska,
Rosemary Ekong,
Peter B. Crino,
Hope Northrup
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.156
Subject(s) - tsc1 , tsc2 , tuberous sclerosis , penetrance , frameshift mutation , phenotype , intellectual disability , medicine , epilepsy , genetics , biology , pathology , gene , psychiatry , apoptosis , pi3k/akt/mtor pathway
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