Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.Y41_C42del1
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EGLN1

NM_022051.3:p.Y41_C42del1

Associated Papers

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Delamare M et al.

Haematologica, 2023

37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf

NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.

Jalowiec KA et al.

Genes, 2021

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