LRP4 c.6G>A ;(p.R2=)

Variant ID: 11-46939925-C-T

NM_002334.3(LRP4):c.6G>A;(p.R2=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Serological diagnosis of myasthenia gravis and its clinical significance.

Annals Of Translational Medicine
Li, Yi Y; Peng, Yuyao Y; Yang, Huan H
Publication Date: 2023-04-15

Variant appearance in text: LRP4: r2=
PubMed Link: 37090043
Variant Present in the following documents:
  • atm-11-07-290.pdf
View BVdb publication page



Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.

Journal Of Neurology, Neurosurgery, And Psychiatry
Cetin, Hakan H; Webster, Richard R; Liu, Wei Wei WW; Nagaishi, Akiko A; Koneczny, Inga I; Zimprich, Fritz F; Maxwell, Susan S; Cossins, Judith J; Beeson, David D; Vincent, Angela A
Publication Date: 2020-05

Variant appearance in text: LRP4: R2=
PubMed Link: 32165373
Variant Present in the following documents:
  • jnnp-2019-322640.pdf
View BVdb publication page



Agrin and low-density lipoprotein-related receptor protein 4 antibodies in amyotrophic lateral sclerosis patients.

Muscle & Nerve
Rivner, Michael H MH; Liu, Siyang S; Quarles, Brandy B; Fleenor, Brandi B; Shen, Chengyong C; Pan, Jinxiu J; Mei, Lin L
Publication Date: 2017-03

Variant appearance in text: LRP4: r2=
PubMed Link: 27756107
Variant Present in the following documents:
  • Main text
View BVdb publication page



MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.

Plos One
Koneczny, Inga I; Cossins, Judith J; Waters, Patrick P; Beeson, David D; Vincent, Angela A
Publication Date: 2013

Variant appearance in text: LRP4: r2=
PubMed Link: 24244707
Variant Present in the following documents:
  • pone.0080695.pdf
View BVdb publication page



Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

Nature Genetics
Rivadeneira, Fernando F; Styrkársdottir, Unnur U; Estrada, Karol K; Halldórsson, Bjarni V BV; Hsu, Yi-Hsiang YH; Richards, J Brent JB; Zillikens, M Carola MC; Kavvoura, Fotini K FK; Amin, Najaf N; Aulchenko, Yurii S YS; Cupples, L Adrienne LA; Deloukas, Panagiotis P; Demissie, Serkalem S; Grundberg, Elin E; Hofman, Albert A; Kong, Augustine A; Karasik, David D; van Meurs, Joyce B JB; Oostra, Ben B; Pastinen, Tomi T; Pols, Huibert A P HA; Sigurdsson, Gunnar G; Soranzo, Nicole N; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Williams, Frances M K FM; Wilson, Scott G SG; Zhou, Yanhua Y; Ralston, Stuart H SH; van Duijn, Cornelia M CM; Spector, Timothy T; Kiel, Douglas P DP; Stefansson, Kari K; Ioannidis, John P A JP; Uitterlinden, André G AG; ,
Publication Date: 2009-11

Variant appearance in text: LRP4: r2=
PubMed Link: 19801982
Variant Present in the following documents:
  • nihms-145793.pdf
View BVdb publication page