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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINF1

Variant:p.V250delFs

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SERPINF1

NM_002615.7:p.V250delFs

hg38:chr17:1775160 CTG>C

Associated Papers

Endoplasmic reticulum stress and autophagy as potential therapeutic targets in SERPINF1 mutation-induced type VI osteogenesis imperfecta.

Tian Y et al.

Life Sciences, 2025

40692043 (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."