Publications:

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

European Journal Of Human Genetics : Ejhg

Wessels, Marja W MW; Herkert, Johanna C JC; Frohn-Mulder, Ingrid M IM; Dalinghaus, Michiel M; van den Wijngaard, Arthur A; de Krijger, Ronald R RR; Michels, Michelle M; de Coo, Irenaeus Fm IF; Hoedemaekers, Yvonne M YM; Dooijes, Dennis D

Publication Date: 2015-07

Variant appearance in text: MYBPC3: 1777del; Ser593fs

PubMed Link: 25335496

Variant Present in the following documents:

• Main text

View BVdb publication page