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The progression of the ClinGen gene clinical validity classification over time

In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, an appropriate timeline for re-evaluating curated gene-disease associations will need to be determined. To provide guidance on how often a gene-disease associat...

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Publicat a:Hum Mutat
Autors principals: McGlaughon, Jennifer L., Goldstein, Jennifer, Thaxton, Courtney, Hemphill, Sarah E., Berg, Jonathan S.
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6190678/
https://ncbi.nlm.nih.gov/pubmed/30311372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23604
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