Reference details

Zhao and Siu1996J. Biol. Chem.6563-6566271Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1 8636066

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 6c.551G>Ap.Arg184GlnMissenseDisease-causing Details
Ig 2Exon 6c.630C>Gp.His210GlnMissenseDisease-causing Details


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