Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Cheng and Lemmon2004Mol. Cell. Neurosci. 522-53027Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate 15555929

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 6c.656T>Cp.Ile219ThrMissenseDisease-causing Details
Ig 3Exon 8c.925G>Ap.Glu309LysMissenseDisease-causing Details
Ig 5Exon 11c.1277C>Ap.Ala426AspMissenseDisease-causing Details
Ig 6Exon 13c.1624T>Cp.Ser542ProMissenseLikely disease-causing Details
Ig 6Exon 14c.1792G>Ap.Asp598AsnMissenseDisease-causing Details

Patients

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