Article

The co-occurrence of genetic variants in the<i>TYR</i>and<i>OCA2</i>genes confers susceptibility to albinism

2023-01-20

Abstract excerpt

<h4>ABSTRACT</h4> Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinations of variants in different genes shape human phenotypes is expected to provide important insights into the clinical and genetic heterogeneity of rare disorde...

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Literature Corpus work: 64c10749-d954-55c3-9e5e-7ac452fb8951
DOI: 10.1101/2023.01.19.23284597

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