Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.I126R
Back to variants list

SFTPC

NM_001317778.2:p.I126R

Associated Papers

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

Litao MK et al.

Pediatric Pulmonology, 2017

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

Mutations in the surfactant protein C gene associated with interstitial lung disease.

Nogee LM et al.

Chest, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."