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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.D139H

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BSCL2

NM_001122955.4:p.D139H

hg38:chr11:62702539 C>G

Associated Papers

Hereditary spastic paraplegia.

Murala S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33439395 (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."