Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.L45R
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SFTPC

NM_001317778.2:p.L45R

Associated Papers

The Impact of Genetics on Pediatric Interstitial Lung Diseases: A Narrative Literature Review and Clinical Implications.

Mazzoni M et al.

Biomedicines, 2026

Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder.

Honjo R et al.

Early Human Development, 2024

Genetic basis for childhood interstitial lung disease among Japanese infants and children.

Hayasaka I et al.

Pediatric Research, 2018

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

Litao MK et al.

Pediatric Pulmonology, 2017

Hereditary interstitial lung diseases manifesting in early childhood in Japan.

Akimoto T et al.

Pediatric Research, 2014

Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene.

Poterjoy BS et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2010

Neonatal respiratory disease due to surfactant protein B deficiency.

Ballard PL

Journal of Perinatology : Official Journal of the California Perinatal Association, 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."