Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.L542R
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EPAS1

NM_001430.5:p.L542R

Associated Papers

Genetic Analysis of Pheochromocytoma and Paraganglioma Complicating Cyanotic Congenital Heart Disease.

Ogasawara T et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

Uyar B et al.

Molecular Biosystems, 2014

25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › COSMIC
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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."