Bibliome.ai browser hg19
Search
About
Stats
FAQ
TSC2 c.109dup ;(p.E37Gfs*30)
Variant ID: 16-2098723-C-CG
NM_000548.3(
TSC2
):c.109dup;(p.E37Gfs*30)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Bmc Medical Genetics
Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN
Publication Date: 2006-09-18
Variant appearance in text: TSC2: 109dupG
PubMed Link:
16981987
Variant Present in the following documents:
Main text
1471-2350-7-72.pdf
View BVdb publication page