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LRP1 c.6449_6450delinsAT ;(p.R2150H)
Variant ID: 12-57578974-GG-AT
NM_002332.2(
LRP1
):c.6449_6450delinsAT;(p.R2150H)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Achievements, challenges and unmet needs for haemophilia patients with inhibitors: Report from a symposium in Paris, France on 20 November 2014.
Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Dargaud, Y Y; Pavlova, A A; Lacroix-Desmazes, S S; Fischer, K K; Soucie, M M; Claeyssens, S S; Scott, D W DW; d'Oiron, R R; Lavigne-Lissalde, G G; Kenet, G G; Escuriola Ettingshausen, C C; Borel-Derlon, A A; Lambert, T T; Pasta, G G; NĂ©grier, C C
Publication Date: 2016-01
Variant appearance in text: CD91: Arg2150His
PubMed Link:
26728503
Variant Present in the following documents:
Main text
View BVdb publication page