Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.R200W
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EPX

NM_000502.6:p.R200W

Associated Papers

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp.docx

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

Couvé S et al.

Cancer Research, 2014

HIF pathway mutations and erythrocytosis.

McMullin MF

Expert Review of Hematology, 2010

Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

Bento MC et al.

Haematologica, 2005

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

Pastore Y et al.

American Journal of Human Genetics, 2003

von Hippel-Lindau disease: recent advances and therapeutic perspectives.

Richard S

Expert Review of Anticancer Therapy, 2003

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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."