Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.Y113H
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SFTPC

NM_001317778.2:p.Y113H

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

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

Abdel Megeid AK et al.

Journal, Genetic Engineering & Biotechnology, 2022

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

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B et al.

Respiratory Medicine Case Reports, 2018

A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.

Hong D et al.

Pediatric Research, 2017

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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."