Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.A1528V
Back to variants list

ABCA3

NM_001089.3:p.A1528V

Associated Papers

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

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

Pachajoa H et al.

Journal of Medical Case Reports, 2016

Variable clinical outcome of ABCA3 deficiency in two siblings.

Thavagnanam S et al.

Pediatric Pulmonology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."