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HR c.1043T>C ;(p.L348P)
Variant ID: 8-21984912-A-G
NM_005144.4(
HR
):c.1043T>C;(p.L348P)
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:
Point mutations in the tri-helix bundle of the M-domain of cardiac myosin binding protein-C influence systolic duration and delay cardiac relaxation.
Journal Of Molecular And Cellular Cardiology
van Dijk, Sabine J SJ; Kooiker, Kristina B KB; Napierski, Nathaniel C NC; Touma, Katia D KD; Mazzalupo, Stacy S; Harris, Samantha P SP
Publication Date: 2018-06
Variant appearance in text: HR: L348P
PubMed Link:
29729251
Variant Present in the following documents:
Main text
View BVdb publication page
Asymmetric cross-regulation between the nitrate-responsive NarX-NarL and NarQ-NarP two-component regulatory systems from Escherichia coli K-12.
Molecular Microbiology
Noriega, Chris E CE; Lin, Hsia-Yin HY; Chen, Li-Ling LL; Williams, Stanly B SB; Stewart, Valley V
Publication Date: 2010-01
Variant appearance in text: HR: L348P
PubMed Link:
19968795
Variant Present in the following documents:
Main text
View BVdb publication page