KCNQ1 c.478-11559T>A

Variant ID: 11-2580299-T-A

NM_000218.2(KCNQ1):c.478-11559T>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Valente, Federica Maria FM; Sparago, Angela A; Freschi, Andrea A; Hill-Harfe, Katherine K; Maas, Saskia M SM; Frints, Suzanna Gerarda Maria SGM; Alders, Marielle M; Pignata, Laura L; Franzese, Monica M; Angelini, Claudia C; Carli, Diana D; Mussa, Alessandro A; Gazzin, Andrea A; Gabbarini, Fulvio F; Acurzio, Basilia B; Ferrero, Giovanni Battista GB; Bliek, Jet J; Williams, Charles A CA; Riccio, Andrea A; Cerrato, Flavia F
Publication Date: 2019-08

Variant appearance in text: rs2283169
PubMed Link: 30635621
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_416.pdf
View BVdb publication page