Varaico: Literature-Extracted Genetic Variants

Gene:TIE1
Variant:p.R481C
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TIE1

NM_005424.5:p.R481C

Associated Papers

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

Brouillard P et al.

The Journal of Clinical Investigation, 2024

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Bao C et al.

Frontiers in Oncology, 2021

34221990 (PubMed )
Supplement: Table_3.xlsx › Table_3

TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.

Michelini S et al.

International Journal of Molecular Sciences, 2020

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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."