Varaico: Literature-Extracted Genetic Variants

Gene:ELL3
Variant:p.R217C
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ELL3

NM_025165.3:p.R217C

Associated Papers

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

Zhu S et al.

Nature Structural & Molecular Biology, 2025

Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.

Kiener S et al.

Genes, 2022

35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_4
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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."