Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing - Concepedia

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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

56

Citations

27

References

2014

Year

Frederic Acke, Fransiska Malfait, Olivier Vanakker, Wouter Steyaert, Kim De Leeneer, Geert Mortier, Ingeborg Dhooge, Anne De Paepe, Els De Leenheer, Paul Coucke

Molecular Genetics and Metabolism

Targeted NgsAutoimmune DiseaseMedicinePathogenesisImmunologyPathologyMolecular PathologyDisease Gene IdentificationVariant InterpretationMolecular DiagnosticsInborn Error Of ImmunityStickler SyndromeConnective Tissue Disease

References

	Year	Citations

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