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TSC2 c.826del ;(p.M276Cfs*17)
Variant ID: 16-2107157-CA-C
NM_000548.3(
TSC2
):c.826del;(p.M276Cfs*17)
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:
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Scientific Reports
Avgeris, Socratis S; Fostira, Florentia F; Vagena, Andromachi A; Ninios, Yiannis Y; Delimitsou, Angeliki A; Vodicka, Radek R; Vrtel, Radek R; Youroukos, Sotirios S; Stravopodis, Dimitrios J DJ; Vlassi, Metaxia M; Astrinidis, Aristotelis A; Yannoukakos, Drakoulis D; Voutsinas, Gerassimos E GE
Publication Date: 2017-12-01
Variant appearance in text: TSC2: 826delA
PubMed Link:
29196670
Variant Present in the following documents:
Main text
41598_2017_Article_16988.pdf
View BVdb publication page