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Article

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

15 Mar 2019

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31005274
DOI: 10.1016/j.kint.2019.01.025

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesPMID 31005274Read ↗

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The genetics and pathogenesis of CAKUTSemantic proximity Read ↗

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CAKUT variants in <i>PRPF8, DYRK2</i> , and <i>CEP78</i> : implications for splicing and ciliogenesisSemantic proximity Read ↗

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