TSC2 c.481+5G>T

Variant ID: 16-2104446-G-T

NM_000548.3(TSC2):c.481+5G>T

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: 481+5G>T; rs137854135
PubMed Link: 32313033
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_62759.pdf
View BVdb publication page