Associated Papers
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms.
Ahlers-Dannen KE et al.
Journal of Human Genetics, 2024
RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family.
Chograni M et al.
Investigative Ophthalmology & Visual Science, 2014
Protein Profiling of RGS6, a Pleiotropic Gene Implicated in Numerous Neuropsychiatric Disorders, Reveals Multi-Isoformic Expression and a Novel Brain-Specific Isoform.
Ahlers-Dannen KE et al.
Eneuro, 0
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