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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELL3

Variant:p.G56_Y57Splc

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ELL3

NM_025165.3:p.G56_Y57Splc

hg38:chr15:43776503 A>C

Associated Papers

Maternal ELL3 loss-of-function leads to oocyte aneuploidy and early miscarriage.

Zhu S et al.

Nature Structural & Molecular Biology, 2025

39820605 (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."