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TTN c.106019del ;(p.G35340Vfs*65)
Variant ID: 2-179395322-AC-A
NM_001267550.1(
TTN
):c.106019del;(p.G35340Vfs*65)
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:
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Journal Of Neuromuscular Diseases
Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P
Publication Date: 2016-08-30
Variant appearance in text: TTN: 106019delG
PubMed Link:
27854229
Variant Present in the following documents:
Main text
jnd-3-jnd160158.pdf
View BVdb publication page
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015
Variant appearance in text: LGMD2J: G35340VfsX65
PubMed Link:
25961035
Variant Present in the following documents:
Main text
BMRI2015-714197.pdf
View BVdb publication page