Associated Papers
Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
Taber CC et al.
Elife, 2025
41114716 (PubMed )
Supplement: elife-107121-supp1.xlsx › Fig_1
Single Nuclei Sequencing Reveals Intratumoral Cellular Heterogeneity and Replication Stress in Adrenocortical Carcinoma.
Popova LV et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 2021
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene.
Moore JA et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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