Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.L101P
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SFTPC

NM_001317778.2:p.L101P

Associated Papers

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Litao MK et al.

Pediatric Pulmonology, 2017

Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Mulugeta S et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C et al.

The European Respiratory Journal, 2015

Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

Matsumura Y et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2008

Genetic disorders of surfactant dysfunction.

Wert SE et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."