PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case records by clinicians a...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Buske, Orion J., Girdea, Marta, Dumitriu, Sergiu, Gallinger, Bailey, Hartley, Taila, Trang, Heather, Misyura, Andriy, Friedman, Tal, Beaulieu, Chandree, Bone, William P., Links, Amanda E., Washington, Nicole L., Haendel, Melissa A., Robinson, Peter N., Boerkoel, Cornelius F., Adams, David, Gahl, William A., Boycott, Kym M., Brudno, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5467641/
https://ncbi.nlm.nih.gov/pubmed/26251998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22851
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