Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.V93I
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ABCA3

NM_001089.3:p.V93I

Associated Papers

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

Zhang R et al.

Bmc Pediatrics, 2024

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

Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population.

Zhou W et al.

Scientific Reports, 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

Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.

Chen P et al.

Investigative Ophthalmology & Visual Science, 2014

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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."