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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.R252W

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BSCL2

NM_001130702.2:p.R252W

hg38:chr11:62690852 T>A

Associated Papers

Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Gentile L et al.

Brain Sciences, 2021

34942918 (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."