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Autor:
Julien Thevenon, Kevin Yauy, Nicolas Duforet-Frebourg, Quentin Testard, Sacha Beaumeunier, Jerome Audoux, Benoit Simard, DImitri Larue, Michael Blum, VIrginie Bernard, David Geneviève, Denis Bertrand, Nicolas Philippe
Observing phenotyping practices from an international cohort of 1,686 cases revealed heterogeneity of phenotype reporting among clinicians. Heterogeneity limited their exploitation for diagnosis as only 43% of symptom-gene associations in the cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a22ed594c89e1a46ac9e01dfc7b612d7
https://doi.org/10.21203/rs.3.rs-2152267/v1
https://doi.org/10.21203/rs.3.rs-2152267/v1
