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Assigning pathogenicity to rare genetic variants is at its hardest with the enormous titin gene, but comprehensive genomic analysis makes the task more tractable (Roberts et al., this issue).

Original publication

DOI

10.1126/scitranslmed.aaa4276

Type

Journal article

Journal

Sci Transl Med

Publication Date

14/01/2015

Volume

7

Keywords

Alleles, Connectin, Heart, Humans, Mutation, Transcription, Genetic