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Discovery of over 200 new and expanded genetic conditions using GeneMatcher

GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory, has utilized GeneMatcher over the last seven years to successfully facilitate connections between clinicians and researchers, generating fruitf...

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Detalles Bibliográficos
Autores principales: McWalter, K., Torti, E., Morrow, M., Juusola, J., Retterer, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306743/
https://www.ncbi.nlm.nih.gov/pubmed/35224800
http://dx.doi.org/10.1002/humu.24351

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