Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.L188V
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EGLN1

NM_022051.3:p.L188V

Associated Papers

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ et al.

Journal of the Endocrine Society, 2017

29308445 (PubMed )
Supplement: js-01-12-1507.st1.docx

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C et al.

Human Mutation, 2014

HIF pathway mutations and erythrocytosis.

McMullin MF

Expert Review of Hematology, 2010

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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."