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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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Wasano, Koichiro, Takahashi, Satoe, Rosenberg, Samuel K., Kojima, Takashi, Mutai, Hideki, Matsunaga, Tatsuo, Ogawa, Kaoru, Homma, Kazuaki
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha: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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