Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.K330_V331Splc
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ABCA3

NM_001089.3:p.K330_V331Splc

Associated Papers

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Pachajoa H et al.

Journal of Medical Case Reports, 2016

Usual interstitial pneumonia in an adolescent with ABCA3 mutations.

Young LR et al.

Chest, 2008

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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."