Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.L110R
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SFTPC

NM_001317778.2:p.L110R

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

Litao MK et al.

Pediatric Pulmonology, 2017

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

Coghlan MA et al.

Bmj Open Respiratory Research, 2014

SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.

Thurm T et al.

European Journal of Clinical Investigation, 2013

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.

Bullard JE et al.

Pediatric Research, 2007

A common mutation in the surfactant protein C gene associated with lung disease.

Cameron HS et al.

The Journal of Pediatrics, 2005

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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."