SI c.2236_2238delinsATG ;(p.L746M)

Variant ID: 3-164757681-TAG-CAT

NM_001041.3(SI):c.2236_2238delinsATG;(p.L746M)

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:

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Huijbers, Maartje G MG; Zhang, Wei W; Klooster, Rinse R; Niks, Erik H EH; Friese, Matthew B MB; Straasheijm, Kirsten R KR; Thijssen, Peter E PE; Vrolijk, Hans H; Plomp, Jaap J JJ; Vogels, Pauline P; Losen, Mario M; Van der Maarel, Silvère M SM; Burden, Steven J SJ; Verschuuren, Jan J JJ
Publication Date: 2013-12-17

Variant appearance in text: SI: L746M
PubMed Link: 24297891
Variant Present in the following documents:
  • Main text
View BVdb publication page