LRP4 c.71A>C ;(p.E24A)

Variant ID: 11-46924462-T-G

NM_002334.3(LRP4):c.71A>C;(p.E24A)

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:

Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.

Frontiers In Neurology
Wang, Aiping A; Xiao, Yangyang Y; Huang, Peng P; Liu, Lingjuan L; Xiong, Jie J; Li, Jian J; Mao, Ding'an D; Liu, Liqun L
Publication Date: 2020

Variant appearance in text: LRP4: Glu24Ala
PubMed Link: 32328026
Variant Present in the following documents:
  • Main text
  • fneur-11-00239.pdf
View BVdb publication page