Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.R153delFs
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P3H3

NM_014262.5:p.R153delFs

Associated Papers

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.

Kurath-Koller S et al.

Ajp Reports, 2015

Surfactant protein-B polymorphisms and mortality in the acute respiratory distress syndrome.

Currier PF et al.

Critical Care Medicine, 2008

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Tredano M et al.

Human Mutation, 1999

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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."