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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
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has major subject area list
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Exome; Genetic Predisposition to Disease; Genome-Wide Association Study; High-Throughput Nucleotide Sequencing; Hirschsprung Disease
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information resource reference
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Gui H, Schriemer D, Cheng WW, Chauhan RK, Antinolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luz?n-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barcel? MM, Hofstra RM. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biol. 2017 03 08; 18(1):48.
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label
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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
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- Total Colonic Aganglionosis
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