TSC2 c.4267C>T ;(p.L1423=)

Variant ID: 16-2134490-C-T

NM_000548.3(TSC2):c.4267C>T;(p.L1423=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Annals Of Neurology
Jia, Xiaoming X; Madireddy, Lohith L; Caillier, Stacy S; Santaniello, Adam A; Esposito, Federica F; Comi, Giancarlo G; Stuve, Olaf O; Zhou, Yuan Y; Taylor, Bruce B; Kilpatrick, Trevor T; Martinelli-Boneschi, Filippo F; Cree, Bruce A C BAC; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Baranzini, Sergio E SE
Publication Date: 2018-07

Variant appearance in text: TSC2: L1423L
PubMed Link: 29908077
Variant Present in the following documents:
  • Main text
  • ANA-84-51.pdf
View BVdb publication page