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A RaDiCAL gene hunt

In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease C...

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Detalles Bibliográficos
Autores principales: Pupavac, Mihaela, Zawati, Ma'n H., Rosenblatt, David S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taibah University 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694981/
https://www.ncbi.nlm.nih.gov/pubmed/31435239
http://dx.doi.org/10.1016/j.jtumed.2016.11.007