Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.H59R
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SFTPC

NM_001317778.2:p.H59R

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

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

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

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

Zhang D et al.

The European Respiratory Journal, 2022

Genetic variants of small airways and interstitial pulmonary disease in children.

Alsamri MT et al.

Scientific Reports, 2021

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

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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."