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PC c.1611C>A ;(p.P537=)
Variant ID: 11-66620124-G-T
NM_001040716.1(
PC
):c.1611C>A;(p.P537=)
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:
Targeting activated protein C to treat hemophilia.
Current Opinion In Hematology
Polderdijk, Stéphanie G I SGI; Baglin, Trevor P TP; Huntington, James A JA
Publication Date: 2017-09
Variant appearance in text: PC: 1611C>A
PubMed Link:
28632502
Variant Present in the following documents:
Main text
cohem-24-446.pdf
View BVdb publication page
The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis.
Scientific Reports
Yang, Li L; Na, Cheng-Lun CL; Luo, Shiyu S; Wu, David D; Hogan, Simon S; Huang, Taosheng T; Weaver, Timothy E TE
Publication Date: 2017-04-12
Variant appearance in text: PC: 1611C>A
PubMed Link:
28401922
Variant Present in the following documents:
Main text
View BVdb publication page