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HR c.1030_1031delinsGC ;(p.C344A)
Variant ID: 8-21984924-CA-GC
NM_005144.4(
HR
):c.1030_1031delinsGC;(p.C344A)
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:
Further characterization of Cys-type and Ser-type anaerobic sulfatase maturating enzymes suggests a commonality in the mechanism of catalysis.
Biochemistry
Grove, Tyler L TL; Ahlum, Jessica H JH; Qin, Rosie M RM; Lanz, Nicholas D ND; Radle, Matthew I MI; Krebs, Carsten C; Booker, Squire J SJ
Publication Date: 2013-04-30
Variant appearance in text: HR: C344A
PubMed Link:
23477283
Variant Present in the following documents:
Main text
View BVdb publication page