Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Universidad Católica de Santiago de Guayaquil
Guayaquil, EcuadorPublicacións en colaboración con investigadores/as de Universidad Católica de Santiago de Guayaquil (3)
2019
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5
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Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Scientific Reports, Vol. 9, Núm. 1
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Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing
Gene, Vol. 696, pp. 28-32