Bibliome.ai browser hg19
Search
About
Stats
FAQ
CP c.2264T>G ;(p.L755R)
Variant ID: 3-148903047-A-C
NM_000096.3(
CP
):c.2264T>G;(p.L755R)
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:
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Plos One
Lipska-Ziętkiewicz, Beata S BS; Gellermann, Jutta J; Boyer, Olivia O; Gribouval, Olivier O; Ziętkiewicz, Szymon S; Kari, Jameela A JA; Shalaby, Mohamed A MA; Ozaltin, Fatih F; Dusek, Jiri J; Melk, Anette A; Bayazit, Aysun K AK; Massella, Laura L; Hyla-Klekot, Lidia L; Habbig, Sandra S; Godron, Astrid A; Szczepańska, Maria M; Bieniaś, Beata B; Drożdż, Dorota D; Odeh, Rasha R; Jarmużek, Wioletta W; Zachwieja, Katarzyna K; Trautmann, Agnes A; Antignac, Corinne C; Schaefer, Franz F; ,
Publication Date: 2017
Variant appearance in text: CP: 2264T>G
PubMed Link:
28796785
Variant Present in the following documents:
pone.0180926.s003.pdf
View BVdb publication page