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Clinical validity classification of curated gene–disease relationships.
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Clinical validity classification of curated gene–disease relationships.

Journal: Annals of Clinical and Translational Neurology

Article Title: Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

doi: 10.1002/acn3.52127

Figure Lengend Snippet: Clinical validity classification of curated gene–disease relationships.

Article Snippet: For genes implicated in more than a single disease entity, including phenotypes on a spectrum beyond LGMD, more inclusive nomenclature was used to indicate the lumped disease entity, also incorporating the gene name to be more specific and consistent with the recommendations from the ClinGen disease naming advisory committee, for example, collagen 6‐related myopathy, myopathy caused by variation in POMT1 .

Techniques: