Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Y.Zarate Personal communication   

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 2Exon 18c.2219G>Ap.Trp740XNonsenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 Unknown c.2219G>A p.Trp740XExon 18 Unknown