Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

PURPOSE: Multilocus variation, pathogenic variants in two or more disease genes, can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a “known” disease gene. METHODS:...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6450542/
https://ncbi.nlm.nih.gov/pubmed/29790871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.33
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