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Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature
CONTEXT: The majority of patients presenting with short stature do not receive a definitive diagnosis. Advances in genetic sequencing allow for large-scale screening of candidate genes, potentially leading to genetic diagnoses. OBJECTIVES: The purpose of this study was to discover genetic variants t...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Endocrine Society
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3733853/ https://ncbi.nlm.nih.gov/pubmed/23771920 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-1534 |
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