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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACACA

Variant:p.E197K

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ACACA

NM_198834.3:p.E197K

hg38:chr17:37283288 C>T

Associated Papers

Could a defective epithelial sodium channel lead to bronchiectasis.

Fajac I et al.

Respiratory Research, 2008

18507830 (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."