Associated Papers
c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease.
Karp N et al.
European Journal of Medical Genetics, 2019
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Melchionda L et al.
Orphanet Journal of Rare Diseases, 2013
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