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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFTPB

Variant:p.C246S

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SFTPB

NM_000542.5:p.C246S

hg38:chr2:85663783 C>G

Associated Papers

Ablation of a critical surfactant protein B intramolecular disulfide bond in transgenic mice.

Beck DC et al.

The Journal of Biological Chemistry, 2000

10652328 (PubMed )

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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."