Findings of a 1303 Korean whole-exome sequencing study.
Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14
Variant appearance in text: TSC2: V1547I; rs745895675
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
American Journal Of Human Genetics
Lim, Jae Seok JS; Gopalappa, Ramu R; Kim, Se Hoon SH; Ramakrishna, Suresh S; Lee, Minji M; Kim, Woo-Il WI; Kim, Junho J; Park, Sang Min SM; Lee, Junehawk J; Oh, Jung-Hwa JH; Kim, Heung Dong HD; Park, Chang-Hwan CH; Lee, Joon Soo JS; Kim, Sangwoo S; Kim, Dong Seok DS; Han, Jung Min JM; Kang, Hoon-Chul HC; Kim, Hyongbum Henry HH; Lee, Jeong Ho JH
Publication Date: 2017-03-02
Variant appearance in text: TSC2: 4639G>A; Val1547Ile
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP