APOE c.134A>T ;(p.E45V)

Variant ID: 19-45411107-A-T

NM_000041.2(APOE):c.134A>T;(p.E45V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.

Nature Communications
Valleix, Sophie S; Verona, Guglielmo G; Jourde-Chiche, Noémie N; Nédelec, Brigitte B; Mangione, P Patrizia PP; Bridoux, Frank F; Mangé, Alain A; Dogan, Ahmet A; Goujon, Jean-Michel JM; Lhomme, Marie M; Dauteuille, Carolane C; Chabert, Michèle M; Porcari, Riccardo R; Waudby, Christopher A CA; Relini, Annalisa A; Talmud, Philippa J PJ; Kovrov, Oleg O; Olivecrona, Gunilla G; Stoppini, Monica M; Christodoulou, John J; Hawkins, Philip N PN; Grateau, Gilles G; Delpech, Marc M; Kontush, Anatol A; Gillmore, Julian D JD; Kalopissis, Athina D AD; Bellotti, Vittorio V
Publication Date: 2016-01-21

Variant appearance in text: APOE: 134A>T
PubMed Link: 26790392
Variant Present in the following documents:
  • Main text
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