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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
- A1
- open access
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
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Lessons learned from 40 novel PIGA patients and a review of the literature
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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity