Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
41443197 (PubMed )
Supplement: mmc1.pdf
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40093222 (PubMed )
Supplement: media-1.pdf
ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.
Ogunbileje JO et al.
Journal of Personalized Medicine, 2024
Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.
Pearson SA et al.
Archives of Biochemistry and Biophysics, 2021
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