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Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease
As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in com...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796713/ https://www.ncbi.nlm.nih.gov/pubmed/27047761 http://dx.doi.org/10.1016/j.atg.2016.01.002 |