Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.P30L
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SFTPC

NM_001317778.2:p.P30L

Associated Papers

Mediastinal lymphadenopathy reflecting disease activity in an infant with chronic pneumonitis of infancy associated with surfactant protein C mutation: a case report and literature review.

Lee SH et al.

Journal of Thoracic Disease, 2018

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

Genetic risk factors associated with respiratory distress syndrome.

Jo HS

Korean Journal of Pediatrics, 2014

SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.

Thurm T et al.

European Journal of Clinical Investigation, 2013

Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.

Baekvad-Hansen M et al.

Respiratory Medicine, 2010

Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C.

Nerelius C et al.

The Biochemical Journal, 2008

Interstitial lung disease in children -- genetic background and associated phenotypes.

Hartl D et al.

Respiratory Research, 2005

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."