Genotype–phenotype correlations in recessive titinopathies
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DOI: 10.1038/s41436-020-0914-2
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… read more here.
Keywords: recessive titinopathies; genotype phenotype; phenotype correlations; ttn ... See more keywords