Condition: SPINOCEREBELLAR ATAXIA 35
rs201964784 in
TGM6 gene and
SPINOCEREBELLAR ATAXIA 35
PMID 22554020 2013 Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
PMID 23206699 2013 Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
PMID 25253745 2014 Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
PMID 21106500 2010 TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.