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LRP1 c.5072G>C ;(p.G1691A)
Variant ID: 12-57573670-G-C
NM_002332.2(
LRP1
):c.5072G>C;(p.G1691A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Current therapeutic approaches in the management of hemophilia-a consensus view by the Romanian Society of Hematology.
Annals Of Translational Medicine
Hotea, Ionut I; Brinza, Melen M; Blag, Cristina C; Zimta, Alina-Andreea AA; Dirzu, Noemi N; Burzo, Corina C; Rus, Ioana I; Apostu, Dragos D; Benea, Horea H; Marian, Mirela M; Mester, Alexandru A; Pasca, Sergiu S; Iluta, Sabina S; Teodorescu, Patric P; Jitaru, Ciprian C; Zdrenghea, Mihnea M; Bojan, Anca A; Torok-Vistai, Tunde T; Niculescu, Radu R; Tarniceriu, Cristina C; Dima, Delia D; Truica, Cristina C; Serban, Margit M; Tomuleasa, Ciprian C; Coriu, Daniel D
Publication Date: 2021-07
Variant appearance in text: LRP1: G1691A
PubMed Link:
34423003
Variant Present in the following documents:
atm-09-13-1091.pdf
View BVdb publication page
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.
Human Genomics
Domitrz, Izabela I; Kosiorek, Michalina M; Żekanowski, Cezary C; Kamińska, Anna A
Publication Date: 2016-01-08
Variant appearance in text: LRP1: G1691A
PubMed Link:
26747084
Variant Present in the following documents:
Main text
40246_2015_Article_57.pdf
View BVdb publication page