VARIANT: 6532v1
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Entry
6532v1 Variant
Name
SLC6A4 gain-of-function mutation
Type
Gain of function
Gene
SLC6A4
solute carrier family 6 member 4 [KO:
K05037
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
182138
Network
nt06544
Neuroactive ligand signaling
Disease
H01450
Obsessive-compulsive disorder
Reference
PMID:
14593431
Authors
Ozaki N, Goldman D, Kaye WH, Plotnicov K, Greenberg BD, Lappalainen J, Rudnick G, Murphy DL
Title
Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype.
Journal
Mol Psychiatry 8:933-6 (2003)
DOI:
10.1038/sj.mp.4001365
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