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HR c.1071A>C ;(p.E357D)
Variant ID: 8-21984884-T-G
NM_005144.4(
HR
):c.1071A>C;(p.E357D)
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:
Mutations in the fourth EGF-like domain affect thrombomodulin-induced changes in the active site of thrombin.
Biochemistry
Koeppe, Julia R JR; Beach, Muneera A MA; Baerga-Ortiz, Abel A; Kerns, S Jordan SJ; Komives, Elizabeth A EA
Publication Date: 2008-10-14
Variant appearance in text: HR: E357D
PubMed Link:
18803401
Variant Present in the following documents:
Main text
View BVdb publication page