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TSC2 c.1952C>T ;(p.P651L)
Variant ID: 16-2121790-C-T
NM_000548.3(
TSC2
):c.1952C>T;(p.P651L)
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:
A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes.
Case Reports In Endocrinology
Delli Colli, Marina M; Alamri, Bader N BN; Palma, Laura L; Rivera, Juan J
Publication Date: 2022
Variant appearance in text: TSC2: 1952C>T
PubMed Link:
35498123
Variant Present in the following documents:
CRIE2022-7659341.pdf
View BVdb publication page