Article

Diversity of<i>CFTR</i>variants across ancestries characterized using 454,727 UK biobank whole exome sequences

2023-03-12

Abstract excerpt

Limited understanding of the diversity of CFTR variants across ancestries hampers efforts to advance molecular diagnosis of cystic fibrosis (CF). The consequences pose a risk of delayed diagnoses and subsequently worsened health outcomes for patients. Characterizing the distribution of CFTR variants across ancestries is, therefore, critical for revolutionizing molecular diagnoses of CF. By interrogating 454,727 UK...

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Literature Corpus work: cad8dd41-32d2-5b6b-8b05-dc95931261dc
DOI: 10.1101/2023.03.10.23287070

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