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
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula A et al.
Scientific Reports, 2019
31395899 (PubMed )
Supplement: 41598_2019_47849_MOESM1_ESM.pdf
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