
l1cammutationdatabase.info
L1cam Mutation DatabaseL1cam Mutation Database
http://www.l1cammutationdatabase.info/
L1cam Mutation Database
http://www.l1cammutationdatabase.info/
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Jan Herman Veldkamp
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NL
View this contact
Aardworm.com
Jan Herman Veldkamp
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NL
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Aardworm.com
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L1cam Mutation Database | l1cammutationdatabase.info Reviews
https://l1cammutationdatabase.info
L1cam Mutation Database
L1cam Mutation Database
http://www.l1cammutationdatabase.info/default.aspx
University Medical Center Groningen. Department of Genetics - L1CAM Mutation Database. L1CAM Mutation Web Page. L1CAM is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1CAM is located near the telomere of the long arm of the X chromosome at Xq28. Mutations in. Article: Vos YJ et al. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet 2010 47(3): 169-75. Work on this data...
References
http://www.l1cammutationdatabase.info/references.aspx
University Medical Center Groningen. Department of Genetics - L1CAM Mutation Database. Expanding the phenotypic spectrum of L1CAM-associated disease. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. Novel mutations in the L1CAM gene support the complexity of L1 syndrome. Am J med Genet A. Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. Dev Med Child Neurol. Hum Mol. Genet.
l1camdatabase.info
http://www.l1cammutationdatabase.info/mutations.aspx
University Medical Center Groningen. Department of Genetics - L1CAM Mutation Database. Del ins; frameshift. 2009 the Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands Website by aardworm.com.
Submit mutation
http://www.l1cammutationdatabase.info/submit.aspx
University Medical Center Groningen. Department of Genetics - L1CAM Mutation Database. Please help us keep this website up-to-date. The option of data submission by external users has primarily been developed for researchers who want add their published data to this database. Unpublished data will be clearly labeled in our database. Your submission will be sent to one of the curators. We will contact you by e-mail if we have any further questions. URL (If article not in PubMed). Del ins; frameshift.
Protein domains
http://www.l1cammutationdatabase.info/proteindomains.aspx
University Medical Center Groningen. Department of Genetics - L1CAM Mutation Database. L1CAM gene with protein domains. 2009 the Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands Website by aardworm.com.
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L1cam Mutation Database
University Medical Center Groningen. Department of Genetics - L1CAM Mutation Database. L1CAM Mutation Web Page. L1CAM is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1CAM is located near the telomere of the long arm of the X chromosome at Xq28. Mutations in. Article: Vos YJ et al. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet 2010 47(3): 169-75. Work on this data...
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