Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13
Three novel Er blood group system alleles and insights from protein modeling.
Lane WJ et al.
Transfusion, 2024
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J et al.
Scientific Reports, 2024
38383731 (PubMed )
Supplement: 41598_2024_54866_MOESM2_ESM.xlsx › Table_S9
Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.
Karamatic Crew V et al.
Blood, 2023
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