Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.H142fs
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SFTPC

NM_001317778.2:p.H142fs

Associated Papers

Genetic basis for childhood interstitial lung disease among Japanese infants and children.

Hayasaka I et al.

Pediatric Research, 2018

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B et al.

Respiratory Medicine Case Reports, 2018

Hereditary interstitial lung diseases manifesting in early childhood in Japan.

Akimoto T et al.

Pediatric Research, 2014

Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis.

Mechri M et al.

Pediatric Pulmonology, 2010

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."