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GHR c.-12+50639C>T
Variant ID: 5-42474696-C-T
NM_000163.5(
GHR
):c.-12+50639C>T
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.
Journal Of Cellular And Molecular Medicine
Dias, Christel C; Giordano, Mara M; Frechette, Rosalie R; Bellone, Simonetta S; Polychronakos, Constantin C; Legault, Laurent L; Deal, Cheri L CL; Goodyer, Cynthia Gates CG
Publication Date: 2017-11
Variant appearance in text: rs11744988
PubMed Link:
28557176
Variant Present in the following documents:
Main text
JCMM-21-2985.pdf
View BVdb publication page