Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.S72N
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SFTPC

NM_001317778.2:p.S72N

Associated Papers

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

Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy.

Furukawa T et al.

Internal Medicine (tokyo, Japan), 2023

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

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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."