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Article

Structure-Based Understanding of ABCA3 Variants.

International journal of molecular sciences - 24 Sept 2021

Onnée Marion, Fanen Pascale, Callebaut Isabelle, de Becdelièvre Alix

Abstract excerpt

ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care. We used 3D structure information to complete the set of available bioinformatics tools dedicated to medical...

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Share to Adenosine Triphosphate
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computational Biology

Share to Lung Diseases, Interstitial

Share to Mutation, Missense

Share to Protein Domains

Share to Pulmonary Surfactants

Share to Respiratory Distress Syndrome, Newborn

Source

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Identifiers

PMID: 34638622
DOI: 10.3390/ijms221910282
PMCID: PMC8508924

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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