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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTEN

Variant:p.K128delFs

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PTEN

NM_000314.8:p.K128delFs

hg38:chr10:87933139 GAA>G

Associated Papers

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

35008978 (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."