Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.S133Fs
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SFTPB

NM_000542.5:p.S133Fs

Associated Papers

Surfactant protein B deficiency: the RespiRare cohort.

Fleury M et al.

Thorax, 2025

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Sallevelt SCEH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.

Jacob A et al.

Cell Stem Cell, 2017

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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."