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TSC2 c.2785G>T ;(p.E929*)
Variant ID: 16-2126534-G-T
NM_000548.3(
TSC2
):c.2785G>T;(p.E929*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.
Frontiers In Medicine
Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y
Publication Date: 2021
Variant appearance in text: TSC2: 2785G>T; Glu929*
PubMed Link:
34901059
Variant Present in the following documents:
Main text
fmed-08-744050.pdf
View BVdb publication page
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08
Variant appearance in text: TSC2: E929*
PubMed Link:
29296220
Variant Present in the following documents:
oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page