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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
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 addr...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174355/ https://www.ncbi.nlm.nih.gov/pubmed/30245029 http://dx.doi.org/10.1016/j.ajhg.2018.08.006 |