Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.P121fs
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SFTPB

NM_000542.5:p.P121fs

Associated Papers

Interstitial Lung Disease and Lung Cancer Associated with a Monoallelic Novel Variant in SFTPB.

Wambach JA et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Surfactant protein B deficiency: the RespiRare cohort.

Fleury M et al.

Thorax, 2025

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.

Wambach JA et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Desroziers T et al.

European Journal of Human Genetics : Ejhg, 2023

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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."