Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.G100V
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SFTPC

NM_001317778.2:p.G100V

Associated Papers

Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.

Tague LK et al.

Jci Insight, 2023

36853803 (PubMed )
Supplement: jciinsight-8-165609-s144.pdf

Hereditary interstitial lung diseases manifesting in early childhood in Japan.

Akimoto T et al.

Pediatric Research, 2014

A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation.

Mulugeta S et al.

American Journal of Respiratory Cell and Molecular Biology, 2005

Interstitial lung disease in children -- genetic background and associated phenotypes.

Hartl D et al.

Respiratory Research, 2005

Mutations in the surfactant protein C gene associated with interstitial lung disease.

Nogee LM et al.

Chest, 2002

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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."