Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Med...
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
About this item
Full title
Author / Creator
Vecten, Maude , Pion, Emmanuelle , Bartoli, Marc , Morales, Raul Juntas , Sternberg, Damien , Rendu, John , Stojkovic, Tanya , Bourdain, Cécile Acquaviva , Métay, Corinne , Richard, Isabelle , Cerino, Mathieu , Milh, Mathieu , Campana-Salort, Emmanuelle , Gorokhova, Svetlana , Levy, Nicolas , Latypova, Xénia , Bonne, Gisèle , Biancalana, Valérie , Petit, François , Molon, Annamaria , Perrin, Aurélien , Laforêt, Pascal , Attarian, Shahram , Krahn, Martin and Cossée, Mireille
Publisher
Basel: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel: MDPI AG
Subjects
More information
Scope and Contents
Contents
The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certain analyses, particularly those of “actionable” genes in diagnostic situations, involving specific treatment and...
Alternative Titles
Full title
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Authors, Artists and Contributors
Author / Creator
Pion, Emmanuelle
Bartoli, Marc
Morales, Raul Juntas
Sternberg, Damien
Rendu, John
Stojkovic, Tanya
Bourdain, Cécile Acquaviva
Métay, Corinne
Richard, Isabelle
Cerino, Mathieu
Milh, Mathieu
Campana-Salort, Emmanuelle
Gorokhova, Svetlana
Levy, Nicolas
Latypova, Xénia
Bonne, Gisèle
Biancalana, Valérie
Petit, François
Molon, Annamaria
Perrin, Aurélien
Laforêt, Pascal
Attarian, Shahram
Krahn, Martin
Cossée, Mireille
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9369031
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9369031
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23158506
