Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.D105G
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SFTPC

NM_001317778.2:p.D105G

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 rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review.

Sengul Y et al.

Radiology Case Reports, 2025

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Abdel Megeid AK et al.

Journal, Genetic Engineering & Biotechnology, 2022

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.

Hong D et al.

Italian Journal of Pediatrics, 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."