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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.3201T>G
p.Tyr1067X
Exon 24
Nonsense
Disease-causing
n.a.
n.a.
n.a.
n.a.
Fn 5
Patients
Family
# Affected relatives
Clinical features
Remarks
Reference
1
unknown
Unknown
Kenwrick
References
Year
Author
Title
Journal
Volume
Pages
Weblink
Kenwrick
?