VARIANT: 5618v1
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Entry
5618v1 Variant
Name
PRLR mutation
Gene
PRLR
prolactin receptor [KO:
K05081
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
176761
Network
nt06325
PRL signaling
Element
N00921
Mutation-inactivated PRLR to PRL-JAK-STAT signaling pathway
Reference
PMID:
24195502
Authors
Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV
Title
Mutant prolactin receptor and familial hyperprolactinemia.
Journal
N Engl J Med 369:2012-20 (2013)
DOI:
10.1056/NEJMoa1307557
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