Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.A227A
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ABCA3

NM_001089.3:p.A227A

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

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Shulenin S et al.

The New England Journal of Medicine, 2004

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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."