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Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants
Thanks to the advent of rapid DNA sequencing technology and its prevalence, many disease-associated genetic variants are rapidly identified in many genes from patient samples. However, the subsequent effort to experimentally validate and define their pathological roles is extremely slow. Consequentl...
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| Publicado en: | Hum Mutat |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6930342/ https://ncbi.nlm.nih.gov/pubmed/31599023 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23930 |
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