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Genetic Screening of ATP7B Gene in Iranian Wilson Disease Patients: A diverse landscape of pathogenic variants

2024-10-16

Abstract excerpt

<title>Abstract</title> <p>Background/Objective: Wilson's disease (WD) is an autosomal recessive condition caused by mutations in the <italic>ATP7B</italic> gene, leading to the copper accumulation in various organs. Data on the <italic>ATP7B</italic> mutation spectrum in Iran and the Middle East is insufficient. This study aims to screen the <italic>ATP7B</italic> gene in unrelated Iranian families (n = 23) fro...

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Literature Corpus work
f1341f2d-9ff2-5cd6-8db4-c600e7c827bd
DOI
10.21203/rs.3.rs-4957273/v1
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Genetic Screening of ATP7B Gene in Iranian Wilson Disease Patients: A diverse landscape of pathogenic variantsDOI 10.21203/rs.3.rs-4957273/v1
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