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TSC2 c.4597_4598delinsGC ;(p.L1533A)
Variant ID: 16-2135258-CT-GC
NM_000548.3(
TSC2
):c.4597_4598delinsGC;(p.L1533A)
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:
Structural insights into TSC complex assembly and GAP activity on Rheb.
Nature Communications
Yang, Huirong H; Yu, Zishuo Z; Chen, Xizi X; Li, Jiabei J; Li, Ningning N; Cheng, Jiaxuan J; Gao, Ning N; Yuan, Hai-Xin HX; Ye, Dan D; Guan, Kun-Liang KL; Xu, Yanhui Y
Publication Date: 2021-01-12
Variant appearance in text: TSC2: L1533A
PubMed Link:
33436626
Variant Present in the following documents:
Main text
41467_2020_Article_20522.pdf
View BVdb publication page