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TTN c.6129_6130insT ;(p.E2044*)
Variant ID: 2-179640461-C-CA
NM_001267550.1(
TTN
):c.6129_6130insT;(p.E2044*)
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:
Population-based variation in cardiomyopathy genes.
Circulation. Cardiovascular Genetics
Golbus, Jessica R JR; Puckelwartz, Megan J MJ; Fahrenbach, John P JP; Dellefave-Castillo, Lisa M LM; Wolfgeher, Don D; McNally, Elizabeth M EM
Publication Date: 2012-08-01
Variant appearance in text: N/A
PubMed Link:
22763267
Variant Present in the following documents:
View BVdb publication page