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Abbreviation: CLN8
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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
ceroid-lipofuscinosis, neuronal 8
(2 times)
Biochemistry
(1 time)
APP (1 time)
ER (1 time)
SETX (1 time)
2017 A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.
ceroid lipofuscinoses type 8
(1 time)
Ophthalmologic Surgical Procedures
(1 time)
aCGH (1 time)
ERG (1 time)
NGS (1 time)
2016 Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.