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CALR c.856A>C ;(p.K286Q)
Variant ID: 19-13051597-A-C
NM_004343.3(
CALR
):c.856A>C;(p.K286Q)
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:
Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Yang, Chunzhang C; Rahimpour, Shervin S; Lu, Jie J; Pacak, Karel K; Ikejiri, Barbara B; Brady, Roscoe O RO; Zhuang, Zhengping Z
Publication Date: 2013-01-15
Variant appearance in text: CALR: K286Q
PubMed Link:
23277556
Variant Present in the following documents:
Main text
View BVdb publication page