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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.E79G

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BSCL2

NM_001122955.4:p.E79G

hg38:chr11:62705469 T>C

Associated Papers

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Brusse E et al.

Neurogenetics, 2009

19396477 (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."