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NR0B2 c.265C>T ;(p.Q89*)
Variant ID: 1-27240167-G-A
NM_021969.2(
NR0B2
):c.265C>T;(p.Q89*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
Journal Of Personalized Medicine
Michelini, Sandro S; Herbst, Karen L KL; Precone, Vincenza V; Manara, Elena E; Marceddu, Giuseppe G; Dautaj, Astrit A; Maltese, Paolo Enrico PE; Paolacci, Stefano S; Ceccarini, Maria Rachele MR; Beccari, Tommaso T; Sorrentino, Elisa E; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Miggiano, Giacinto Abele Donato GAD; Bertelli, Matteo M
Publication Date: 2022-02-11
Variant appearance in text: NR0B2: 265C>T; rs150160927
PubMed Link:
35207755
Variant Present in the following documents:
Main text
jpm-12-00268.pdf
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs150160927
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page