Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB1
Variant:p.P591fs
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PLXNB1

NM_001130082.3:p.P591fs

Associated Papers

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.

Morales-Rosado JA et al.

Molecular Genetics & Genomic Medicine, 2020

32597037 (PubMed )
Supplement: MGG3-8-e1341-s001.docx
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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."