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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLXNB1

Variant:p.D460del1

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PLXNB1

NM_001130082.3:p.D460del1

hg38:chr3:48422368 CCAT>C

Associated Papers

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Rydning SL et al.

Brain : a Journal of Neurology, 2019

30847471 (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."