A comprehensive global genotype–phenotype database for rare diseases

BACKGROUND: The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here,...

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Detalles Bibliográficos
Autores principales: Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210/
https://www.ncbi.nlm.nih.gov/pubmed/28116331
http://dx.doi.org/10.1002/mgg3.262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210/
https://www.ncbi.nlm.nih.gov/pubmed/28116331
http://dx.doi.org/10.1002/mgg3.262

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