Associated Papers
Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY.
Kuan J et al.
Frontiers in Pediatrics, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L et al.
Journal of Molecular Medicine (berlin, Germany), 2021
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L et al.
Journal of Molecular Medicine (berlin, Germany), 2021
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
Zeiad RKHM et al.
Journal of the Endocrine Society, 2021
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Tracewska-Siemiątkowska A et al.
Genes, 2017
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