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Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913.
Haematologica. 2023.
PMID: 37317877
Free PMC article.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B.
Karaghiannis V, et al.
Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698.
Haematologica. 2023.
PMID: 36700397
Free PMC article.
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