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3 Hits
Search Condition : Filter (MeSH = Ataxia / genetics*)
Species
Resource
RRC ID
Title
Journal
Published
Link
Human and Animal Cells
HCT116(RCB2979)
,
HCT116-XRCC4(-/-)(RCB2981)
67645
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
J Allergy Clin Immunol
2015-10-1
Pubmed
Full text
Zebrafish
Tg(6xTcf/LefBS-miniP:d2EGFP)
51254
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Sci Rep
2017-8-31
Pubmed
Full text
Rats
GRY/Idr(strainID=498)
,
BN/SsNSlc(strainID=371)
2808
The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures.
Brain Res
2007-2-16
Pubmed
Full text