MYBPC3 c.1381G>T ;(p.E461*)

Variant ID: 11-47364457-C-A

NM_000256.3(MYBPC3):c.1381G>T;(p.E461*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

Plos One
McNamara, James W JW; Li, Amy A; Lal, Sean S; Bos, J Martijn JM; Harris, Samantha P SP; van der Velden, Jolanda J; Ackerman, Michael J MJ; Cooke, Roger R; Dos Remedios, Cristobal G CG
Publication Date: 2017

Variant appearance in text: MYBPC3: E461X
PubMed Link: 28658286
Variant Present in the following documents:
  • Main text
  • pone.0180064.pdf
  • pone.0180064.s002.xlsx, sheet 1
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