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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R3B

Variant:p.Q55*

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PPP1R3B

NM_024607.4:p.Q55*

hg38:chr8:9141489 G>A

Associated Papers

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

Brewer MK et al.

Iscience, 2021

34755096 (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."