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CP c.1026C>A ;(p.N342K)
Variant ID: 3-148925160-G-T
NM_000096.3(
CP
):c.1026C>A;(p.N342K)
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:
In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.
Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05
Variant appearance in text: rs17847026
PubMed Link:
32457125
Variant Present in the following documents:
jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page
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: 1026C>A
PubMed Link:
28796785
Variant Present in the following documents:
pone.0180926.s003.pdf
View BVdb publication page