Cargando...

A resource to explore the discovery of rare diseases and their causative genes

Here, we describe a dataset with information about monogenic, rare diseases with a known genetic background, supplemented with manually extracted provenance for the disease itself and the discovery of the underlying genetic cause. We assembled a collection of 4166 rare monogenic diseases and linked...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Sci Data
Main Authors: Ehrhart, Friederike, Willighagen, Egon L., Kutmon, Martina, van Hoften, Max, Curfs, Leopold M. G., Evelo, Chris T.
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2021
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8096966/
https://ncbi.nlm.nih.gov/pubmed/33947870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41597-021-00905-y
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!