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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFTPB

Variant:p.G155G

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SFTPB

NM_000542.5:p.G155G

hg38:chr2:85665723 C>A

Associated Papers

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Desroziers T et al.

European Journal of Human Genetics : Ejhg, 2023

37380697 (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."