Varaico: Literature-Extracted Genetic Variants

Gene:EPPK1
Variant:p.D2018N
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EPPK1

NM_031308.4:p.D2018N

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Coste T et al.

Prenatal Diagnosis, 2025

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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."