Publications:

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

Scientific Reports

Grønskov, Karen K; Jespersgaard, Cathrine C; Bruun, Gitte Hoffmann GH; Harris, Pernille P; Brøndum-Nielsen, Karen K; Andresen, Brage S BS; Rosenberg, Thomas T

Publication Date: 2019-01-24

Variant appearance in text: TYR: 1185-6208A>G; rs147546939

PubMed Link: 30679655

Variant Present in the following documents:

• Main text
• 41598_2018_Article_37272.pdf

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