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TSC2 c.5161del ;(p.M1721Wfs*105)
Variant ID: 16-2138228-GA-G
NM_000548.3(
TSC2
):c.5161del;(p.M1721Wfs*105)
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:
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: 5161del; Met1721Trpfs*105
PubMed Link:
34901059
Variant Present in the following documents:
Main text
fmed-08-744050.pdf
View BVdb publication page