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LRP4 c.199A>C ;(p.I67L)
Variant ID: 11-46924334-T-G
NM_002334.3(
LRP4
):c.199A>C;(p.I67L)
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:
The unfolding landscape of the congenital myasthenic syndromes.
Annals Of The New York Academy Of Sciences
Engel, Andrew G AG; Shen, Xin-Ming XM; Selcen, Duygu D
Publication Date: 2018-02
Variant appearance in text: LRP4: Ile67Leu
PubMed Link:
29355968
Variant Present in the following documents:
Main text
View BVdb publication page