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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.A212P

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BSCL2

NM_001130702.2:p.A212P

hg38:chr11:62692413 C>G

Associated Papers

Seipin: from human disease to molecular mechanism.

Cartwright BR et al.

Journal of Lipid Research, 2012

22474068 (PubMed )

Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.

Fei W et al.

Journal of Lipid Research, 2011

21957196 (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."