Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.P115L
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SFTPC

NM_001317778.2:p.P115L

Associated Papers

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

Litao MK et al.

Pediatric Pulmonology, 2017

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

Thurm T et al.

European Journal of Clinical Investigation, 2013

A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation.

Mulugeta S et al.

American Journal of Respiratory Cell and Molecular Biology, 2005

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

Hartl D et al.

Respiratory Research, 2005

Genetic disorders of surfactant homeostasis.

Whitsett JA et al.

Biology of the Neonate, 2005

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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."