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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFTPC

Variant:p.C120*

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SFTPC

NM_001317778.2:p.C120*

hg38:chr8:22163471 C>A

Associated Papers

Methylprednisolone pulse treatment improves ProSP-C trafficking in twins with SFTPC mutation: An isoform story?

Delestrain C et al.

British Journal of Clinical Pharmacology, 2021

33179299 (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."