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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGN

Variant:p.E308Splc

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PIGN

NM_176787.5:p.E308Splc

hg38:chr18:62143352 A>C

Associated Papers

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Dawes R et al.

Nature Genetics, 2023

36747048 (PubMed )

Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › Ours_RNA

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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."