TG c.648_656del ;(p.D216_V219delinsE)

Variant ID: 8-133894117-ATGCATTTGT-A

NM_003235.4(TG):c.648_656del;(p.D216_V219delinsE)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation
Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP
Publication Date: 2010-11

Variant appearance in text: TG: 648_656del
PubMed Link: 20809525
Variant Present in the following documents:
  • Main text
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