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- W2003011312 abstract "European Journal of Human Genetics (2011) 19, doi:10.1038/ejhg.2011.16; published online 16 February 20111. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Renal coloboma syndrome (Papillorenal syndrome).1.2 OMIM# of the disease120330.1.3 Name of the analyzed genes or DNA/chromosome segmentsPaired box gene 2 (PAX2 ).1.4 OMIM# of the gene(s)167409.1.5 Mutational spectrumTo date, there have been more than 25 published autosomal dominantmutations identifiedinthecoding regionofthe PAX2 gene.The majorityofthese mutations occurin exons2–4(encoding the paireddomain) andexons 7–9 (encoding the transact ivation domain). The most commonrecurrent mutations are frameshif t mutations within a homoguaninestretch (7Gs) in exon 2 (c.76dup, c.76del, c.75_76dup)." @default.
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- W2003011312 date "2011-02-16" @default.
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- W2003011312 title "Clinical utility gene card for: renal coloboma (Papillorenal) syndrome" @default.
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- W2003011312 doi "https://doi.org/10.1038/ejhg.2011.16" @default.
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