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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
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Mutations
Protein domains
References
Mutation Details
DNA change
Protein change
Exon/intron
Type
Reported classification
Bateman
SIFT
PolyPhen
Conserved
Protein domain
Remarks
LOVD ID
c.1209dupA
p.Cys404MetfsX2
Exon 10
Duplication; frameshift
Disease-causing
n.a.
n.a.
n.a.
n.a.
Ig 4
Patients
References
Year
Author
Title
Journal
Volume
Pages
Weblink
2010
Vos et al.
To be published