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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R2

Variant:p.E135Splc

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PPP1R2

NM_006241.8:p.E135Splc

hg38:chr3:195523689 T>A

Associated Papers

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Stark JC et al.

Genome Medicine, 2025

40597352 (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."