Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.L326R
Back to variants list

ABCA3

NM_001089.3:p.L326R

Associated Papers

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.

Serra G et al.

Journal of Clinical Medicine, 2025

Cryo-EM structures of the human surfactant lipid transporter ABCA3.

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.

Kunig AM et al.

The Journal of Pediatrics, 2007

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."