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LDLR c.395_396delinsAT ;(p.R132H)
Variant ID: 19-11215977-GG-AT
NM_000527.4(
LDLR
):c.395_396delinsAT;(p.R132H)
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:
Comprehensive characterization of protein-protein interactions perturbed by disease mutations.
Nature Genetics
Cheng, Feixiong F; Zhao, Junfei J; Wang, Yang Y; Lu, Weiqiang W; Liu, Zehui Z; Zhou, Yadi Y; Martin, William R WR; Wang, Ruisheng R; Huang, Jin J; Hao, Tong T; Yue, Hong H; Ma, Jing J; Hou, Yuan Y; Castrillon, Jessica A JA; Fang, Jiansong J; Lathia, Justin D JD; Keri, Ruth A RA; Lightstone, Felice C FC; Antman, Elliott Marshall EM; Rabadan, Raul R; Hill, David E DE; Eng, Charis C; Vidal, Marc M; Loscalzo, Joseph J
Publication Date: 2021-03
Variant appearance in text: LDLR: Arg132His
PubMed Link:
33558758
Variant Present in the following documents:
Main text
View BVdb publication page
Therapeutic nanoplatforms and delivery strategies for neurological disorders.
Nano Convergence
Kang, You Jung YJ; Cutler, Eric Gerard EG; Cho, Hansang H
Publication Date: 2018-11-30
Variant appearance in text: LDLR: R132H
PubMed Link:
30499047
Variant Present in the following documents:
40580_2018_Article_168.pdf
View BVdb publication page