Contribution of Noncanonical Splice Variants to TTN Truncating Variants Cardiomyopathy.

Parth N. Patel,Kaoru Ito,Jon A. L. Willcox,Alireza Haghighi,Min Young Jang,Joshua M. Gorham,Steven R. DePalma,Lien Lam,Barbara McDonough,Renee Johnson,Neal K. Lakdawala,Amy E. Roberts,Paul J.R. Barton,Stuart Alexander Cook,Diane Fatkin,Christine E. Seidman,Jon G. Seidman

Contribution of Noncanonical Splice Variants to TTN Truncating Variants Cardiomyopathy.

2021

Parth N. Patel
Kaoru Ito
Jon A. L. Willcox
Alireza Haghighi
Min Young Jang
Joshua M. Gorham
Steven R. DePalma
Lien Lam
Barbara McDonough
Renee Johnson
Neal K. Lakdawala
Amy E. Roberts
Paul J.R. Barton
Stuart Alexander Cook
Diane Fatkin
Christine E. Seidman
Jon G. Seidman

Background: Heterozygous TTN truncating variants cause 10% to 20% of idiopathic dilated cardiomyopathy (DCM). Although variants which disrupt canonical splice signals (ie, invariant dinucleotide of...

Keywords:

splice
Genetics
Cardiomyopathy
idiopathic dilated cardiomyopathy
Exon
Heart failure
Biology
Invariant (mathematics)
Intron

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