Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.G1002Splc
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ABCA3

NM_001089.3:p.G1002Splc

Associated Papers

Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population.

Zhou W et al.

Scientific Reports, 2017

28642621 (PubMed )
Supplement: 41598_2017_4486_MOESM1_ESM.pdf

Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.

Arıkan-Ayyıldız Z et al.

Pediatric Pulmonology, 2014

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

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Hamvas A et al.

The Journal of Pediatrics, 2009

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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."