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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT2

Variant:p.S208Fs

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PRRT2

NM_145239.3:p.S208Fs

hg38:chr16:29813677 CC>A

Associated Papers

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

36918699 (PubMed )

Supplement: 41598_2023_31134_MOESM1_ESM.pdf

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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."