Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

HIGHLIGHTS

  • who: Maude Vecten and collaborators from the Département de Génétique, Hôpital Bichat-Claude-Bernard, APHP, Paris, France have published the Article: Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care, in the Journal: (JOURNAL) of 10/02/2020
  • what: In the project the authors carried out an objective assessment of the clinical actionability of genes involved in myopathies for which only __NEWPAGE__Int.

SUMMARY

    The authors used the semi-quantitative actionability metric established by ClinGen to score the . . .

     

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