VARIANT: 3350v1
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Entry
3350v1 Variant
Name
HTR1A mutation
Type
Loss of function
Gene
HTR1A
5-hydroxytryptamine receptor 1A [KO:
K04153
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
109760
Network
nt06544
Neuroactive ligand signaling
Disease
H02773
Menstrual cycle-dependent periodic fever
Reference
PMID:
21990073
Authors
Jiang YC, Wu HM, Cheng KH, Sunny Sun H
Title
Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A gene.
Journal
Hum Mutat 33:209-17 (2012)
DOI:
10.1002/humu.21622
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