Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.L146F
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EOMES

NM_001278182.2:p.L146F

Associated Papers

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.

Waller RG et al.

Human Molecular Genetics, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518
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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."