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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
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Mutations
Protein domains
References
Reference details
Author
Year
Journal
Pages
Volume
Title
Weblink
Kaplan
1983
J. Med. Genet.
122-124
20
X-linked recessive inheritance of agenesis of the corpus callosum
6682447
Mutations mentioned in reference
No mutations found.
Patients
Family
# Affected relatives
DNA change
Protein change
Exon/Intron
Clinical features
Remarks
1
unknown
c.1895G>C
p.Arg632Pro
Exon 15
(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Mental retardation