Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.C121F
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SFTPC

NM_001317778.2:p.C121F

Associated Papers

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

Litao MK et al.

Pediatric Pulmonology, 2017

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C et al.

The European Respiratory Journal, 2015

Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.

van Hoorn J et al.

Bmj Case Reports, 2014

Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine.

Hepping N et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2013

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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."