Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.L489I
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TBCE

NM_003193.5:p.L489I

Associated Papers

Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.

Peirone S et al.

Frontiers in Oncology, 2024

39421445 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Whole exome sequencing in familial isolated primary hyperparathyroidism.

Cetani F et al.

Journal of Endocrinological Investigation, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."