European Journal of Medical Genetics
ISSN: 1769-7212
Datasets associated with articles published in European Journal of Medical Genetics
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5 results
- Data for: A Familial PLCB4 Mutation Causing Auriculocondylar Syndrome 2 with Variable SeveritySanger sequencing confirmation of the revealed mutation
- Dataset
- Data for: De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literaturesupplementary data
- Dataset
- Data for: De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literaturesummary of variations in COL4A1
- Dataset
- Data for: Benign Hereditary Chorea and deletions outside NKX2-1: what’s the role of MBIP?WES analysis and filtering
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- Data for: Benign Hereditary Chorea and deletions outside NKX2-1: what’s the role of MBIP?CANOES analysis of the WES data
- Dataset