Paper Details

Paper Title

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

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2024

Bio Mention

E3 RING, E3 ubiquitin ligase, Leigh syndrome, MMD, Patients, RING, RNF213, Zinc, fibroblasts, missense variants, monogenic RNF213-related disease, moyamoya disease, patient, patient derived, stroke, susceptibility gene

Mesh Descriptor

Author Name	Affiliation
Axel Schmidt	Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn
Robert McFarland	Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne United Kingdom NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust
Hakon Hakonarson	Children's Hospital of Philadelphia, USA The Center for Applied Genomics, Perelman School of Medicine, University of Pennsylvania
Hakon Hakonarson	Children's Hospital of Philadelphia, USA The Center for Applied Genomics, Perelman School of Medicine, University of Pennsylvania
Thomas Meitinger	Technical University of Munich, Institute of Human Genetics
Thomas Meitinger	Technical University of Munich, Institute of Human Genetics

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Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

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