Associated Papers
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
Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema.
Bogari NM et al.
Journal of Infection and Public Health, 2020
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