Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.P969S
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ABCA3

NM_001089.3:p.P969S

Associated Papers

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

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

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Oltvai ZN et al.

Cold Spring Harbor Molecular Case Studies, 2020

32532878 (PubMed )
Supplement: supp_mcs.a005074_Supplemental_Tables.pdf

Lung disease caused by ABCA3 mutations.

Kröner C et al.

Thorax, 2017

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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."