Bibliome.ai browser hg19
Search
About
Stats
FAQ
TSC2 c.336+1del
Variant ID: 16-2103452-AG-A
NM_000548.3(
TSC2
):c.336+1del
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:
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15
Variant appearance in text: TSC2: 336delG
PubMed Link:
24271014
Variant Present in the following documents:
Main text
View BVdb publication page