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TTN c.2977_2978delinsGC ;(p.F993A)
Variant ID: 2-179647655-AA-GC
NM_001267550.1(
TTN
):c.2977_2978delinsGC;(p.F993A)
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:
Swing-out of the β3 hybrid domain is required for αIIbβ3 priming and normal cytoskeletal reorganization, but not adhesion to immobilized fibrinogen.
Plos One
Cheng, Ming M; Li, Jihong J; Negri, Ana A; Coller, Barry S BS
Publication Date: 2013
Variant appearance in text: TMD: F993A
PubMed Link:
24349096
Variant Present in the following documents:
Main text
pone.0081609.pdf
View BVdb publication page