MYL2 c.376C>T ;(p.Q126*)

Variant ID: 12-111350926-G-A

NM_000432.3(MYL2):c.376C>T;(p.Q126*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

European Journal Of Human Genetics : Ejhg
Verhagen, Judith M A JMA; Veldman, Job H JH; van der Zwaag, Paul A PA; von der Thüsen, Jan H JH; Brosens, Erwin E; Christiaans, Imke I; Dooijes, Dennis D; Helderman-van den Enden, Apollonia T J M ATJM; Lekanne Deprez, Ronald H RH; Michels, Michelle M; van Mil, Anneke M AM; Oldenburg, Rogier A RA; van der Smagt, Jasper J JJ; van den Wijngaard, Arthur A; Wessels, Marja W MW; Hofstra, Robert M W RMW; van Slegtenhorst, Marjon A MA; Jongbloed, Jan D H JDH; van de Laar, Ingrid M B H IMBH
Publication Date: 2018-11

Variant appearance in text: MYL2: 376C>T; Gln126*
PubMed Link: 29988065
Variant Present in the following documents:
  • Main text
  • 41431_2018_Article_208.pdf
View BVdb publication page