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Functional Genomics of ABCA3 Variants
Rare or private, biallelic variants in the ABCA3 (ATP-binding cassette transporter A3) gene are the most common monogenic cause of lethal neonatal respiratory failure and childhood interstitial lung disease. Functional characterization of fewer than 10% of over 200 disease-associated ABCA3 variants...
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| Publicado no: | Am J Respir Cell Mol Biol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Thoracic Society
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7528924/ https://ncbi.nlm.nih.gov/pubmed/32692933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2020-0034MA |
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