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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFTPC

Variant:p.Y106*

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SFTPC

NM_001317778.2:p.Y106*

hg38:chr8:22163196 C>A

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

Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.

Baekvad-Hansen M et al.

Respiratory Medicine, 2010

19910179 (PubMed )

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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."