Open AccessIdentification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex
Author(s) -
Linli Liu,
Chunshui Yu,
Gaowu Yan
Publication year - 2022
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000028666
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , minigene , sanger sequencing , medicine , microcephaly , haploinsufficiency , pathology , rna splicing , genetics , biology , mutation , gene , phenotype , pi3k/akt/mtor pathway , pediatrics , apoptosis , rna