Article

<i>ATP7B</i> Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 Skipping

2019-07-05

Abstract excerpt

<h4>ABSTRACT</h4> Wilson Disease is a recessive genetic disorder caused by pathogenic loss-of-function variants in the ATP7B gene. It is characterized by disrupted copper homeostasis resulting in liver disease and/or neurological abnormalities. The variant NM_000053.3:c.1934T>G (Met645Arg) has been reported as compound heterozygous and is highly prevalent among Wilson Disease patients of Spanish descent. Accordi...

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Literature Corpus work: f6db75cc-3a8a-5f88-a929-4b426f1d3c26
DOI: 10.1101/693572

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