Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.K63E
Back to variants list

SFTPC

NM_001317778.2:p.K63E

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

Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder.

Honjo R et al.

Early Human Development, 2024

Hereditary interstitial lung diseases manifesting in early childhood in Japan.

Akimoto T et al.

Pediatric Research, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."