VARIANT: 6505v1
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Entry
6505v1 Variant
Name
SLC1A1 mutation
Type
Loss of function
Gene
SLC1A1
solute carrier family 1 member 1 [KO:
K05612
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
133550
Network
nt06544
Neuroactive ligand signaling
Disease
H01649
Schizophrenia
Reference
PMID:
23341099
Authors
Myles-Worsley M, Tiobech J, Browning SR, Korn J, Goodman S, Gentile K, Melhem N, Byerley W, Faraone SV, Middleton FA
Title
Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.
Journal
Am J Med Genet B Neuropsychiatr Genet 162B:87-95 (2013)
DOI:
10.1002/ajmg.b.32125
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