HIGHLIGHTS
- who: Luisa Averdunk from the review boards (King Faisal Specialist Hospital and Research Center have published the article: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype, in the Journal: (JOURNAL)
- what: The aim of this study was to delineate the clinical phenotypes associated with biallelic pathogenic variants in YARS1 to improve disease recognition and health surveillance. The authors identified and characterized 10 newly diagnosed and two previously reported individuals carrying the homozygous missense variant NM_003680.3:c.1099C > T, p.(Arg367Trp) in YARS1 and summarized all previously published patients from . . .
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