TSC2 c.3179G>C ;(p.W1060S)

Variant ID: 16-2129324-G-C

NM_000548.3(TSC2):c.3179G>C;(p.W1060S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports
Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A
Publication Date: 2020-04-20

Variant appearance in text: TSC2: 3179G>C
PubMed Link: 32313033
Variant Present in the following documents:
  • Main text
  • 41598_2020_62759_MOESM1_ESM.pdf
  • 41598_2020_Article_62759.pdf
View BVdb publication page