Associated Papers
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
39062917 (PubMed )
Supplement: ijms-25-07674-s001.zip › Supplementary_table_3.xlsx › ACMG_classified_variants
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS et al.
The Journal of Clinical Investigation, 2024
38015619 (PubMed )
Supplement: jci-134-172573-s088.xlsx › Sheet1
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
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