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Lista de obras de Ana Vega

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

artículo científico publicado en 2019

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

artículo científico publicado en 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

scientific article published on 18 February 2020

Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

scientific article published on 01 February 2019

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

article

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