Varaico: Literature-Extracted Genetic Variants

Gene:EEF1AKMT3
Variant:p.R207Q
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EEF1AKMT3

NM_015433.3:p.R207Q

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.

Pytel V et al.

Brain and Behavior, 2019

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Glentis S et al.

Frontiers in Genetics, 2019

31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_13

Identification of novel SNPs in glioblastoma using targeted resequencing.

Keller A et al.

Plos One, 2011

21695249 (PubMed )
Supplement: pone.0018158.s001.xls › Patient_B_Leuko
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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."