SMN1 c.40_41delinsAC ;(p.E14T)

Variant ID: 5-70220970-GA-AC

NM_000344.3(SMN1):c.40_41delinsAC;(p.E14T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Isolation of an ES-Derived Cardiovascular Multipotent Cell Population Based on VE-Cadherin Promoter Activity.

Stem Cells International
Maltabe, Violetta A VA; Barka, Eleonora E; Kontonika, Marianthi M; Florou, Dimitra D; Kouvara-Pritsouli, Maria M; Roumpi, Maria M; Agathopoulos, Simeon S; Kolettis, Theofilos M TM; Kouklis, Panos P
Publication Date: 2016

Variant appearance in text: SMA: E14T
PubMed Link: 28101109
Variant Present in the following documents:
  • Main text
  • SCI2016-8305624.pdf
View BVdb publication page