Condition: Ataxia, Spinocerebellar
rs201477273 in
POLG gene and
Ataxia, Spinocerebellar
PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 19364868 2009 R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.
PMID 24091540 2013 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
PMID 20176107 2010 Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
PMID 19762913 2009 A variable neurodegenerative phenotype with polymerase gamma mutation.
PMID 28492532 2017 Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.