Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.E600K
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EPAS1

NM_001430.5:p.E600K

Associated Papers

WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.

Xu L et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778325 (PubMed )
Supplement: media-4.xlsx › Sheet1

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

Mistry V et al.

Plos One, 2015

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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."