A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum-Nielsen, Brage S. Andresen, Thomas Rosenberg

12 Citations (Scopus)
2 Downloads (Pure)

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Medicine & Life Sciences