Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.R286Splc
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SFTPB

NM_000542.5:p.R286Splc

Associated Papers

Surfactant protein B deficiency: the RespiRare cohort.

Fleury M et al.

Thorax, 2025

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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."