[PMID 19607881] A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient

[PMID 15307048] A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.

[PMID 17948041] A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia.

[PMID 19142206] Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.

[PMID 19907666] AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.

[PMID 21348901] PAX6 polymorphisms in 20 Chinese children with supernumerary teeth in the maxillary incisor area.


Parent Gene: PAX6

Importance: 1
Less common allele: A = 9%
More common allele: G = 91%
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