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Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
Many genes have been suggested as candidate genes for keratoconus based on their function, their proximity to associated polymorphisms or due to the identification of putative causative variants within the gene. However, very few of these genes have been assessed for rare variation in keratoconus mo...
Autores principales: | Lucas, Sionne E. M., Zhou, Tiger, Blackburn, Nicholas B., Mills, Richard A., Ellis, Jonathan, Leo, Paul, Souzeau, Emmanuelle, Ridge, Bronwyn, Charlesworth, Jac C., Lindsay, Richard, Craig, Jamie E., Burdon, Kathryn P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010250/ https://www.ncbi.nlm.nih.gov/pubmed/29924831 http://dx.doi.org/10.1371/journal.pone.0199178 |
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