Structural analysis of pathogenic mutations in the dyrk1a gene in patients with developmental disorders

HIGHLIGHTS

• who: Jochem M.G. Evers and collaborators from the European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, UK, Genomic Medicine, St Marys Hospital, Central Manchester University Hospitals have published the Article: Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders, in the Journal: (JOURNAL)
• future: In vitro experiments could be performed in future work to elucidate the effects of natural variants on the protein compared to the pathogenic variants.

SUMMARY

Ji et_al analysed three missense mutations and observed that they occur in close proximity . . .

 



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