High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
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Published:2021-11
Issue:11
Volume:23
Page:2160-2170
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Benkirane MehdiORCID, Marelli Cecilia, Guissart Claire, Roubertie Agathe, Ollagnon Elizabeth, Choumert Ariane, Fluchère Frédérique, Magne Fabienne Ory, Halleb Yosra, Renaud Mathilde, Larrieu Lise, Baux David, Patat Olivier, Bousquet Idriss, Ravel Jean-Marie, Cuntz-Shadfar Danielle, Sarret Catherine, Ayrignac Xavier, Rolland Anne, Morales Raoul, Pointaux Morgane, Lieutard-Haag Cathy, Laurens Brice, Tillikete Caroline, Bernard Emilien, Mallaret Martial, Carra-Dallière Clarisse, Tranchant Christine, Meyer Pierre, Damaj Lena, Pasquier Laurent, Acquaviva Cecile, Chaussenot Annabelle, Isidor Bertrand, Nguyen Karine, Camu William, Eusebio Alexandre, Carrière Nicolas, Riquet Audrey, Thouvenot Eric, Gonzales Victoria, Carme Emilie, Attarian Shahram, Odent Sylvie, Castrioto Anna, Ewenczyk Claire, Charles Perrine, Kremer Laurent, Sissaoui Samira, Bahi-buisson Nadia, Kaphan Elsa, Degardin Adrian, Doray Bérénice, Julia Sophie, Remerand Ganaëlle, Fraix Valerie, Haidar Lydia Abou, Lazaro Leila, Laugel Vincent, Villega Frederic, Charlin Cyril, Frismand Solène, Moreira Marinha Costa, Witjas Tatiana, Francannet Christine, Walther-Louvier Ulrike, Fradin Mélanie, Chabrol Brigitte, Fluss Joel, Bieth Eric, Castelnovo Giovanni, Vergnet Sylvain, Meunier Isabelle, Verloes Alain, Brischoux-Boucher Elise, Coubes Christine, Geneviève David, Lebouc Nicolas, Azulay Jean Phillipe, Anheim Mathieu, Goizet Cyril, Rivier François, Labauge Pierre, Calvas Patrick, Koenig Michel
Subject
Genetics (clinical)
Cited by
16 articles.
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