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.




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