VARIANT: 2911v1
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Entry
2911v1 Variant
Name
GRM1 mutation
Gene
GRM1
glutamate metabotropic receptor 1 [KO:
K04603
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
604473
Network
nt06462
Spinocerebellar ataxia
nt06466
Pathways of neurodegeneration
nt06528
Calcium signaling
Disease
H00063
Spinocerebellar ataxia (SCA)
H01891
Autosomal recessive spinocerebellar ataxias
Reference
PMID:
28886343
Authors
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Nemeth AH
Title
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Journal
Am J Hum Genet 101:451-458 (2017)
DOI:
10.1016/j.ajhg.2017.08.005
LinkDB
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DBGET
integrated database retrieval system
