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Symptom-driven idiopathic disease gene identification
PURPOSE: Rare genetic variants are the major cause of Mendelian disorders, yet only half of described genetic diseases have been causally linked to a gene. In addition, the total number of rare genetic diseases is projected to be far greater than that of those already described. Whole-genome sequenc...
Gorde:
| Argitaratua izan da: | Genet Med |
|---|---|
| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4861313/ https://ncbi.nlm.nih.gov/pubmed/25590976 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.202 |
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