Article

The functional impact of 1,570 SNP-accessible missense variants in human <i>OTC</i>

2022-10-26

Abstract excerpt

<h4>ABSTRACT</h4> Deleterious mutations in the X-linked gene encoding ornithine transcarbamylase ( OTC ) cause the most common urea cycle disorder, OTC deficiency. This rare, but highly actionable disease can present with severe neonatal onset in males or with later onset in either sex. Neonatal onset patients appear normal at birth but rapidly develop hyperammonemia, which can progress to cerebral edema, coma a...

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Literature Corpus work: 018baeb5-8539-5c72-a175-051ebf173e80
DOI: 10.1101/2022.10.26.513893

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