Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.V39L
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SFTPC

NM_001317778.2:p.V39L

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 comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.

Tang X et al.

Italian Journal of Pediatrics, 2025

Genetic testing for rare pediatric lung disorders: The promise and the pitfalls.

Nogee LM

Pediatric Investigation, 2020

Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.

Tang X et al.

Pediatric Investigation, 2019

Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.

Chen J et al.

Pediatric Pulmonology, 2019

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

Genetic basis for childhood interstitial lung disease among Japanese infants and children.

Hayasaka I et al.

Pediatric Research, 2018

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B et al.

Respiratory Medicine Case Reports, 2018

[Clinical manifestations of three cases of surfactant protein C p. V39L mutation].

Chen JH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017

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

Natural history of five children with surfactant protein C mutations and interstitial lung disease.

Avital A 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."