Article

Atypical Polycystic Kidney Disease in Individuals Heterozygous for <i>ALG8</i> Protein-truncating variants

2022-07-18

Abstract excerpt

<h4>Background</h4> Heterozygous ALG8 variants have previously been associated with polycystic liver disease (PLD) with or without kidney cysts. A clear-cut relationship between application of PKD diagnostic criteria and kidney manifestations of ALG8 variants remains to be described. We therefore sought to determine whether ALG8 protein-truncating variant (PTV) heterozygotes are at increased risk of polycystic kid...

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Literature Corpus work: 288f6911-b47d-5ac8-ba19-ad6e4ac13fdf
DOI: 10.1101/2022.07.13.22277451

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Atypical Polycystic Kidney Disease in Individuals Heterozygous for <i>ALG8</i> Protein-truncating variantsDOI 10.1101/2022.07.13.22277451Read

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