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Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus
PURPOSE: Gene identification in small families segregating autosomal dominant sensorineural hearing loss presents a significant challenge. To address this challenge, we have developed a machine learning based software tool, AudioGene v2.0, to prioritize candidate genes for mutation screening based o...
Tallennettuna:
| Päätekijät: | , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2008
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3337550/ https://ncbi.nlm.nih.gov/pubmed/18941426 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318187e106 |
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