De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke - Concepedia

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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

DOI Full Paper Access

13

Citations

26

References

2023

Year

Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning,

Genetics in Medicine

Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic EpidemiologyNeurologyDisease Gene IdentificationLeigh SyndromeVariant InterpretationMolecular DiagnosticsClinical SpectrumClinical Genetics

References

	Year	Citations

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