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...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schnieders, Michael J., Nishimura, Carla, Braun, Terry, Smith, Richard J.H.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6174355/
https://ncbi.nlm.nih.gov/pubmed/30245029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.08.006
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