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CALR c.139G>C ;(p.G47R)
Variant ID: 19-13049995-G-C
NM_004343.3(
CALR
):c.139G>C;(p.G47R)
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:
Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.
Pharmacogenomics And Personalized Medicine
Rizk, Malak M; Tüzmen, Şükrü Ş
Publication Date: 2017
Variant appearance in text: SSA: Gly47Arg
PubMed Link:
29184431
Variant Present in the following documents:
pgpm-10-267.pdf
View BVdb publication page