Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.P248S
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ABCA3

NM_001089.3:p.P248S

Associated Papers

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Fleury M et al.

Pediatric Pulmonology, 2025

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

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

Yang X et al.

International Journal of Molecular Sciences, 2023

ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.

Wang J et al.

Translational Pediatrics, 2021

A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene.

Wei M et al.

Frontiers in Pediatrics, 2020

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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."