Article

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in <i>C2orf69</i>

2021-03-12

Abstract excerpt

<h4>Background</h4> Deciphering the function of the many genes previously classified as uncharacterized “open reading frame” (orf) completes our understanding of cell function and its pathophysiology. <h4>Methods</h4> Whole-exome sequencing, yeast 2-hybrid and transcriptome analyses together with molecular characterization are used here to uncover the function of the C2orf69 gene. <h4>Results</h4> We identify loss...

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Literature Corpus work: 75e98250-013c-5b17-ac35-e0ebcdfdfe89
DOI: 10.1101/2021.03.08.21252805

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