Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.C121Y
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SFTPC

NM_001317778.2:p.C121Y

Associated Papers

Aberrant intermediate alveolar epithelial cells promote pathogenic activation of lung fibroblasts in preclinical fibrosis models.

Hoffman ET et al.

Nature Communications, 2025

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

An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis.

Katzen J et al.

Jci Insight, 2019

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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."