Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.V102M
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SFTPC

NM_001317778.2:p.V102M

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

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.

Zhang D et al.

The European Respiratory Journal, 2022

A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation).

Fattori A et al.

Chest, 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

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

Litao MK et al.

Pediatric Pulmonology, 2017

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

Peca D et al.

European Journal of Human Genetics : Ejhg, 2015

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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."