Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.D1149N
Back to variants list

ABCA3

NM_001089.3:p.D1149N

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

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.

Shaaban W et al.

Journal of Medical Case Reports, 2021

A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.

Mitsiakos G et al.

Medicina (kaunas, Lithuania), 2019

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."