Associated Papers
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Harville HM et al.
Journal of Medical Genetics, 2010
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Grønskov K et al.
European Journal of Human Genetics : Ejhg, 1999
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