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Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants

Corneal resistance factor (CRF) is altered during corneal diseases progression. Genome-wide-association studies (GWAS) indicated potential CRF and disease genetics overlap. Here, we characterise 135 CRF loci following GWAS in 76029 UK Biobank participants. Enrichment of extra-cellular matrix gene-se...

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Detalles Bibliográficos
Autores principales: Jiang, Xinyi, Dellepiane, Nefeli, Pairo-Castineira, Erola, Boutin, Thibaud, Kumar, Yatendra, Bickmore, Wendy A., Vitart, Veronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732848/
https://www.ncbi.nlm.nih.gov/pubmed/33311554
http://dx.doi.org/10.1038/s42003-020-01497-w