Associated Papers
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38411040 (PubMed )
Supplement: NIHMS2049943-supplement-1.pdf
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
van Kuilenburg ABP et al.
Human Mutation, 2018
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