Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.M71V
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SFTPC

NM_001317778.2:p.M71V

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

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

The Genetic Landscape of Familial Pulmonary Fibrosis.

Liu Q et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Genetic disorders of the surfactant system: focus on adult disease.

van Moorsel CHM et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2021

Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.

Michalski JE et al.

Journal of Inflammation Research, 2020

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

Litao MK et al.

Pediatric Pulmonology, 2017

Lung fibrosis-associated surfactant protein A1 and C variants induce latent transforming growth factor β1 secretion in lung epithelial cells.

Maitra M et al.

The Journal of Biological Chemistry, 2013

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.

Ono S et al.

The European Respiratory Journal, 2011

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

van Moorsel CH et al.

American Journal of Respiratory and Critical Care Medicine, 2010

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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."