Article

The contribution of common regulatory and protein-coding <i>TYR</i> variants in the genetic architecture of albinism

2021-11-01

Abstract excerpt

<h4>ABSTRACT</h4> Genetic diseases have been historically segregated into rare Mendelian and common complex conditions. 1,2 Large-scale studies using genome sequencing are eroding this distinction and are gradually unmasking the underlying complexity of human traits. 3–8 Aiming to gain insights into the genetic architecture of rare recessive disorders, we studied a cohort of 1,313 individuals with albinism, an arc...

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Literature Corpus work: ea77901a-f620-5567-9744-1fd6acea1fe5
DOI: 10.1101/2021.11.01.21265733

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