Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

T. Heinemeyer · Nucleic Acids Research · 1998 · 1.5K citations · Full text

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Avoiding Recomputation in Linkage Analysis

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Long-range chromatin regulatory interactions in vivo

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Life Sciences, Genetics, Molecular Biology +12

The history and geography of human genes

Ruth Mace · Trends in Ecology & Evolution · 1995 · 644 citations

Life Sciences, Biology, Genetics +12

A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation

David L. Duffy, Grant W. Montgomery, Wei Chen et al. · The American Journal of Human Genetics · 2007 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +11