Varaico: Literature-Extracted Genetic Variants

Gene:CFDP1
Variant:p.E14K
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CFDP1

NM_006324.3:p.E14K

Associated Papers

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Decreased UDP-GlcNAc levels abrogate proliferation control in EMeg32-deficient cells.

Boehmelt G et al.

The Embo Journal, 2000

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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."