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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG2

Variant:p.T53I

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PLEKHG2

NM_022835.3:p.T53I

hg38:chr19:39415040 C>T

Associated Papers

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2022

36233161 (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."