EGF c.2080G>A ;(p.E694K)

Variant ID: 4-110901154-G-A

NM_001963.4(EGF):c.2080G>A;(p.E694K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Human Molecular Genetics
McBride, Kim L KL; Riley, Maurisa F MF; Zender, Gloria A GA; Fitzgerald-Butt, Sara M SM; Towbin, Jeffrey A JA; Belmont, John W JW; Cole, Susan E SE
Publication Date: 2008-09-15

Variant appearance in text: EGF: E694K
PubMed Link: 18593716
Variant Present in the following documents:
  • Main text
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