A web tool for the design and management of panels of genes for targeted...
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View ArticleExome Sequencing Reveals Novel and Recurrent Mutations with Clinical...
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View ArticleRe-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
González-del Pozo M, Bravo-Gil N, Méndez-Vidal C, et al."Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F."Am. J. Med. Genet. A. 2015;167:1597-1600 .
View ArticleThe EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T, Sivera R, Martínez-Rubio D, et al."The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease."Eur. J. Neurol.. 2015.
View ArticleWhole exome sequencing coupled with unbiased functional analysis reveals new...
Gui H, Schriemer D, Cheng WW, et al."Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes."Genome Biol.. 2017;18(1):48.
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