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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA3

Variant:p.G581Splc

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ABCA3

NM_001089.3:p.G581Splc

hg38:chr16:2299390 G>C

Associated Papers

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

Bækvad-Hansen M et al.

Respiratory Research, 2012

22866751 (PubMed )

Supplement: 1465-9921-13-67-S4.doc

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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."