Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.Q108_L109Splc
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SFTPC

NM_001317778.2:p.Q108_L109Splc

Associated Papers

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B et al.

Respiratory Medicine Case Reports, 2018

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Litao MK et al.

Pediatric Pulmonology, 2017

New surfactant protein C gene mutations associated with diffuse lung disease.

Guillot L et al.

Journal of Medical Genetics, 2009

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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."