Varaico: Literature-Extracted Genetic Variants

Gene:EOLA2
Variant:p.C53W
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EOLA2

NM_001013845.2:p.C53W

Associated Papers

Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.

Jeon H et al.

Plos One, 2025

40408428 (PubMed )
Supplement: pone.0323302.s003.xlsx › Sheet1

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.

Ganesamoorthy D et al.

Bmc Cancer, 2022

35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 1524_P0

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

Schlechter N et al.

Frontiers in Immunology, 2017

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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."