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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TDP1

Variant:p.A55S

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TDP1

NM_018319.4:p.A55S

hg38:chr14:89963277 G>T

Associated Papers

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.

Dumitrache LC et al.

Mechanisms of Ageing and Development, 2017

27125728 (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."