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.




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