CABP5 c.281C>A ;(p.T94N)

Variant ID: 19-48542532-G-T

NM_019855.4(CABP5):c.281C>A;(p.T94N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
Futema, Marta M; Plagnol, Vincent V; Li, KaWah K; Whittall, Ros A RA; Neil, H Andrew W HA; Seed, Mary M; , ; Bertolini, Stefano S; Calandra, Sebastiano S; Descamps, Olivier S OS; Graham, Colin A CA; Hegele, Robert A RA; Karpe, Fredrik F; Durst, Ronen R; Leitersdorf, Eran E; Lench, Nicholas N; Nair, Devaki R DR; Soran, Handrean H; Van Bockxmeer, Frank M FM; , ; Humphries, Steve E SE
Publication Date: 2014-08

Variant appearance in text: CABP5: T94N
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
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