Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.C248*
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SFTPB

NM_000542.5:p.C248*

Associated Papers

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Desroziers T et al.

European Journal of Human Genetics : Ejhg, 2023

The Common Haplotype GATGACA in Surfactant-Protein B Gene Is Protective for Respiratory Distress Syndrome in Preterm Neonates.

Mikolajcikova S et al.

Frontiers in Pediatrics, 2022

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

Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.

Nogee LM et al.

American Journal of Respiratory and Critical Care Medicine, 2000

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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."