Genotype–phenotype correlations in recessive titinopathies
Abstract
High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this...
Paper Details
Title
Genotype–phenotype correlations in recessive titinopathies
Published Date
Dec 1, 2020
Journal
Volume
22
Issue
12
Pages
2029 - 2040
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