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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.E180*

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BSCL2

NM_001130702.2:p.E180*

hg38:chr11:62692698 C>A

Associated Papers

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.

Opri R et al.

Seizure, 2016

27632409 (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."