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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PUM1

Variant:p.N779N

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PUM1

NM_001020658.2:p.N779N

hg38:chr1:30953968 A>G

Associated Papers

Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.

Lai KL et al.

Parkinsonism & Related Disorders, 2019

31422002 (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."