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TSC2 c.990_991insT ;(p.N331*)
Variant ID: 16-2110685-G-GT
NM_000548.3(
TSC2
):c.990_991insT;(p.N331*)
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:
Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
Bmj Case Reports
Dunet, Vincent V; Qanadli, Salah Dine SD; Lazor, Romain R; Beigelman-Aubry, Catherine C
Publication Date: 2013-01-21
Variant appearance in text: TSC2: 990insT
PubMed Link:
23341583
Variant Present in the following documents:
Main text
View BVdb publication page