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.




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