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ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis

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0 Published in 2019 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2018.11.015

Abstract: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders characterized by progressive neurodegeneration and declines in neurological functions. Pathogenic sequence variants in at least 13 genes underlie different forms of NCL, almost all of which… read more here.

Keywords: neuronal ceroid; atp13a2 missense; australian cattle; missense variant ... See more keywords