Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.G97S
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SFTPC

NM_001317778.2:p.G97S

Associated Papers

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

Allogeneic Mesenchymal Stromal Cells as a Global Pediatric Prospective Approach in the Treatment of Respiratory Failure Associated with Surfactant Protein C Dysfunction.

Pelizzo G et al.

Children (basel, Switzerland), 2023

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2018

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

Litao MK et al.

Pediatric Pulmonology, 2017

Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.

Arıkan-Ayyıldız Z et al.

Pediatric Pulmonology, 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."