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Recessive variants in the intergenic<i>NOS1AP-C1orf226</i>locus cause monogenic kidney disease responsive to anti-proteinuric treatment

2024-03-21

Abstract excerpt

<h4>ABSTRACT</h4> In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in NOS1AP , encoding nitric oxide synthase 1 (NOS1) adaptor protein, cause monogenic nephrotic syndrome (NS). Here, we determined that an intergenic splice product of N OS1AP / Nos1a...

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Literature Corpus work
faa8066c-416b-5c7a-aa3e-7b6680f466bd
DOI
10.1101/2024.03.17.24303374
Open publication

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Recessive variants in the intergenic<i>NOS1AP-C1orf226</i>locus cause monogenic kidney disease responsive to anti-proteinuric treatmentDOI 10.1101/2024.03.17.24303374
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