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skin/hair/eye pigmentation, blond/brown hair
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Pathways
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melanocyte development and pigmentation pathway
species not specified
one gene
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Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Cancer Gene Census
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HERC2
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
OCA2
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase
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
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
TPCN2
Structure of the voltage-gated two-pore channel TPC1 from Arabidopsis thaliana
KITLG
Expression of messenger RNA for kit-ligand in human placenta: localization by in situ hybridization and identification of alternatively spliced variants
Subregional mapping of 13 single-copy genes on the long arm of chromosome 12 by fluorescence in situ hybridization
Stem cell factor (SCF), a novel hematopoietic growth factor and ligand for c-kit tyrosine kinase receptor, maps on human chromosome 12 between 12q14.3 and 12qter
Alternate splicing of mRNAs encoding human mast cell growth factor and localization of the gene to chromosome 12q22-q24
Primary structure and functional expression of rat and human stem cell factor DNAs