Associated Papers
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
40958716 (PubMed )
Supplement: alm-46-1-94-supple1.xlsx › Table_S6
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y et al.
Molecular Genetics and Metabolism, 0
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