VARIANT: 2693v1
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Entry
2693v1 Variant
Name
GHSR mutation
Gene
GHSR
growth hormone secretagogue receptor [KO:
K04284
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
601898
Network
nt06324
GHRH-GH-IGF signaling
Disease
H00254
Growth hormone deficiency
Reference
PMID:
19789204
Authors
Pantel J, Legendre M, Nivot S, Morisset S, Vie-Luton MP, le Bouc Y, Epelbaum J, Amselem S
Title
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.
Journal
J Clin Endocrinol Metab 94:4334-41 (2009)
DOI:
10.1210/jc.2009-1327
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