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. Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W., & Hansen, L. Human Genetics, 123(2):177–187, March, 2008.
Paper doi bibtex @article{eiberg_blue_2008,
title = {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},
volume = {123},
issn = {0340-6717, 1432-1203},
url = {http://link.springer.com/10.1007/s00439-007-0460-x},
doi = {10.1007/s00439-007-0460-x},
language = {en},
number = {2},
urldate = {2024-01-21},
journal = {Human Genetics},
author = {Eiberg, Hans and Troelsen, Jesper and Nielsen, Mette and Mikkelsen, Annemette and Mengel-From, Jonas and Kjaer, Klaus W. and Hansen, Lars},
month = mar,
year = {2008},
pages = {177--187},
}
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