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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFCAB13

Variant:p.S269Splc

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EFCAB13

NM_152347.5:p.S269Splc

hg38:chr17:47370436 G>A

Associated Papers

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )

Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )

Supplement: 13059_2016_1102_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."