VARIANT: 153v1
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Entry
153v1 Variant
Name
ADRB1 mutation
Type
Loss of function
Gene
ADRB1
adrenoceptor beta 1 [KO:
K04141
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
109630
Network
nt06544
Neuroactive ligand signaling
Disease
H02849
Familial natural short sleep
Reference
PMID:
31473062
Authors
Shi G, Xing L, Wu D, Bhattacharyya BJ, Jones CR, McMahon T, Chong SYC, Chen JA, Coppola G, Geschwind D, Krystal A, Ptacek LJ, Fu YH
Title
A Rare Mutation of beta(1)-Adrenergic Receptor Affects Sleep/Wake Behaviors.
Journal
Neuron 103:1044-1055.e7 (2019)
DOI:
10.1016/j.neuron.2019.07.026
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