MYBPC3 c.1543A>G ;(p.N515D)

Variant ID: 11-47364210-T-C

NM_000256.3(MYBPC3):c.1543A>G;(p.N515D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research
Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH
Publication Date: 2013-02

Variant appearance in text: MYBPC3: Asn515Asp
PubMed Link: 23233322
Variant Present in the following documents:
  • Main text
  • 12265_2012_Article_9425.pdf
View BVdb publication page