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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...

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Bibliografiske detaljer
Udgivet i:Genet Med
Main Authors: Molparia, Bhuvan, Pham, Phillip H., Torkamani, Ali
Format: Artigo
Sprog:Inglês
Udgivet: 2015
Fag:
Online adgang: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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