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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.F170_G171delFs

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BSCL2

NM_001130702.2:p.F170_G171delFs

hg38:chr11:62692720 AAAGCC>A

Associated Papers

Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

Sánchez-Iglesias S et al.

Neurogenetics, 2019

30903322 (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."