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Article

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

20 Sept 2018

Abstract excerpt

The classification of genetic variants represents a major challenge in the post-genome era by virtue of their extraordinary number and the complexities associated with ascribing a clinical impact, especially for disorders exhibiting exceptional phenotypic, genetic, and allelic heterogeneity. To address this challenge for hearing loss, we have developed the Deafness Variation Database (DVD), a comprehensive,...

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PMID: 30245029
DOI: 10.1016/j.ajhg.2018.08.006

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