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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDYN

Variant:p.E128D

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PDYN

NM_024411.5:p.E128D

hg38:chr20:1980704 C>A

Associated Papers

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.

Maksemous N et al.

Biomedicines, 2020

32466254 (PubMed )

Supplement: biomedicines-08-00134-s001.zip › biomedicines-802193-supplementary-fianl › Supplementary_Table_S3.pdf

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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."