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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.
Nat Genet. 2010.
PMID: 20802478
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN.
Rödelsperger C, et al. Among authors: de condor bj.
Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28.
Bioinformatics. 2011.
PMID: 21278187
Free PMC article.
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