FH c.1048_1049delinsTA ;(p.R350*)

Variant ID: 1-241667401-CG-TA

NM_000143.3(FH):c.1048_1049delinsTA;(p.R350*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
Futema, Marta M; Whittall, Ros A RA; Kiley, Amy A; Steel, Louisa K LK; Cooper, Jackie A JA; Badmus, Ebele E; Leigh, Sarah E SE; Karpe, Fredrik F; Neil, H Andrew W HA; , ; Humphries, Steve E SE
Publication Date: 2013-07

Variant appearance in text: FH: Arg350*
PubMed Link: 23669246
Variant Present in the following documents:
  • Main text
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