Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.R295C
Back to variants list

ABCA3

NM_001089.3:p.R295C

Associated Papers

Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.

Yang X et al.

International Journal of Molecular Sciences, 2023

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

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

Identification and characterization of a novel ABCA3 mutation.

Park SK et al.

Physiological Genomics, 2010

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."