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TÃTULO: Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis Full Text
AUTORES: Karaghiannis, Valena; Maric, Darko; Garrec, Celine; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loic; Antunes, Vincent; Airaud, Fabrice; Aral, Bernard; Le Roy, Amandine; Corbineau, Sebastien; Mansour Hendili, Lamisse; Lesieur, Valentine; Rimbert, Antoine; Laporte, Fabien; Delamare, Marine; Rab, Mink; Bezieau, Stephane; Cassinat, Bruno; Galacteros, Frederic; Gimenez Roqueplo, Anne Paule; Burnichon, Nelly; Cario, Holger; van Wijk, Richard; Bento, Celeste; Girodon, Francois; Hoogewijis, David; Gardie, Betty; ...Mais
PUBLICAÇÃO: 2023, FONTE: HAEMATOLOGICA, VOLUME: 108, NÚMERO: 6

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TÃTULO: Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
AUTORES: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin W; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno; ...Mais
PUBLICAÇÃO: 2022, FONTE: NATURE GENETICS, VOLUME: 54, NÚMERO: 8

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TÃTULO: Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
AUTORES: Marion Lenglet; Florence Robriquet; Klaus Schwarz; Carme Camps; Anne Couturier; David Hoogewijs; Alexandre Buffet; Samantha J L Knight; Sophie Gad; Sophie Couve; Franck Chesnel; Mathilde Pacault; Pierre Lindenbaum; Sylvie Job; Solenne Dumont; Thomas Besnard; Marine Cornec; Helene Dreau; Melissa Pentony; Erika Kvikstad; Sophie Deveaux; Nelly Burnichon; Sophie Ferlicot; Mathias Vilaine; Jean Michael Mazzella; Fabrice Airaud; Celine Garrec; Laurence Heidet; Sabine Irtan; Elpis Mantadakis; Karim Bouchireb; Klaus Michael Debatin; Richard Redon; Stephane Bezieau; Brigitte Bressac de Paillerets; Bin Tean Teh; Francois Girodon; Maria Luigia Randi; Maria Caterina Putti; Vincent Bours; Richard VanWijk; Joachim R Goethert; Antonis Kattamis; Nicolas Janin; Celeste Bento; Jenny C Taylor; Yannick Arlot Bonnemains; Stephane Richard; Anne Paule Gimenez Roqueplo; Holger Cario; Betty Gardie; ...Mais
PUBLICAÇÃO: 2018, FONTE: BLOOD, VOLUME: 132, NÚMERO: 5

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Scopus

WOS

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