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TSC2 c.382A>C ;(p.K128Q)
Variant ID: 16-2104342-A-C
NM_000548.3(
TSC2
):c.382A>C;(p.K128Q)
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:
Interactive Roles for AMPK and Glycogen from Cellular Energy Sensing to Exercise Metabolism.
International Journal Of Molecular Sciences
Janzen, Natalie R NR; Whitfield, Jamie J; Hoffman, Nolan J NJ
Publication Date: 2018-10-26
Variant appearance in text: TSC2: K128Q
PubMed Link:
30373152
Variant Present in the following documents:
Main text
ijms-19-03344.pdf
View BVdb publication page