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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MUC20

Variant:p.E507_R508del1

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MUC20

NM_001282506.2:p.E507_R508del1

hg38:chr3:195726123 AAAG>A

Associated Papers

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.

Zhou YH et al.

American Journal of Respiratory and Critical Care Medicine, 2023

36921087 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."