Variant: rs753334568 

    present in Gene: TTN-AS1;TTN
    present in Chromosome: 2
    Position on Chromosome: 178546041
    Alleles of this Variant: G/A

rs753334568 in TTN-AS1;TTN gene and Cardiomyopathy, Dilated, 1g PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 22526018 2012 Next generation sequencing for molecular diagnosis of neuromuscular diseases.

PMID 25500009 2015 New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

PMID 24636144 2014 Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

rs753334568 in TTN-AS1;TTN gene and Hereditary Myopathy with Early Respiratory Failure PMID 24231549 2014 Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

rs753334568 in TTN-AS1;TTN gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

PMID 22526018 2012 Next generation sequencing for molecular diagnosis of neuromuscular diseases.

PMID 25500009 2015 New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 24636144 2014 Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.