Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.P32S
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ABCA3

NM_001089.3:p.P32S

Associated Papers

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

36808083 (PubMed )
Supplement: thorax-2022-219434supp001.pdf

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

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 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

Lung disease caused by ABCA3 mutations.

Kröner C et al.

Thorax, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Surfactant lipidomics in healthy children and childhood interstitial lung disease.

Griese M et al.

Plos One, 2015

25692779 (PubMed )
Supplement: pone.0117985.s007.pdf
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