Condition: ACHROMATOPSIA 4
rs121434585 in
GNAT2 gene and
ACHROMATOPSIA 4
PMID 12077706 2002 Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
PMID 21107338 2011 Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.