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High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01250-6. , 2021

Link: https://hal.science/hal-03282716

RT Journal
T1 <Title>High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivlille:oai:HAL:hal-03282716v1&Exemplar=1&LAN=DE
				
A1 Benkirane, Mehdi
A1 Marelli, Cecilia
A1 Guissart, Claire
A1 Roubertie, Agathe
A1 Ollagnon, Elizabeth
A1 Choumert, Ariane
A1 Fluchère, Frédérique
A1 Magne, Fabienne Ory
A1 Halleb, Yosra
A1 Renaud, Mathilde
A1 Larrieu, Lise
A1 Baux, David
A1 Patat, Olivier
A1 Bousquet, Idriss
A1 Ravel, Jean-Marie
A1 Cuntz-Shadfar, Danielle
A1 Sarret, Catherine
A1 Ayrignac, Xavier
A1 Rolland, Anne
A1 Morales, Raoul
A1 Pointaux, Morgane
A1 Lieutard-Haag, Cathy
A1 Laurens, Brice
A1 Tillikete, Caroline
A1 Bernard, Emilien
A1 Mallaret, Martial
A1 Carra-Dallière, Clarisse
A1 Tranchant, Christine
A1 Meyer, Pierre
A1 Damaj, Lena
A1 Pasquier, Laurent
A1 Acquaviva, Cecile
A1 Chaussenot, Annabelle
A1 Isidor, Bertrand
A1 Nguyen, Karine
A1 Camu, William
A1 Eusebio, Alexandre
A1 Carrière, Nicolas
A1 Riquet, Audrey
A1 Thouvenot, Eric
A1 Gonzales, Victoria
A1 Carme, Emilie
A1 Attarian, Shahram
A1 Odent, Sylvie
A1 Castrioto, Anna
A1 Ewenczyk, Claire
A1 Charles, Perrine
A1 Kremer, Laurent
A1 Sissaoui, Samira
A1 Bahi-Buisson, Nadia
A1 Kaphan, Elsa
A1 Degardin, Adrian
A1 Doray, Bérénice
A1 Julia, Sophie
A1 Remerand, Ganaëlle
A1 Fraix, Valerie
A1 Haidar, Lydia Abou
A1 Lazaro, Leila
A1 Laugel, Vincent
A1 Villega, Frederic
A1 Charlin, Cyril
A1 Frismand, Solène
A1 Moreira, Marinha Costa
A1 Witjas, Tatiana
A1 Francannet, Christine
A1 Walther-Louvier, Ulrike
A1 Fradin, Mélanie
A1 Chabrol, Brigitte
A1 Fluss, Joel
A1 Bieth, Eric
A1 Castelnovo, Giovanni
A1 Vergnet, Sylvain
A1 Meunier, Isabelle
A1 Verloes, Alain
A1 Brischoux-Boucher, Elise
A1 Coubes, Christine
A1 Geneviève, David
A1 Lebouc, Nicolas
A1 Azulay, Jean Phillipe
A1 Anheim, Mathieu
A1 Goizet, Cyril
A1 Rivier, Francois
A1 Labauge, Pierre
A1 Calvas, Patrick
A1 Koenig, Michel
PB HAL CCSD; Nature Publishing Group
YR 2021
K1 [SDV]Life Sciences [q-bio]
K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01250-6
LK http://dx.doi.org/https://hal.science/hal-03282716
DO https://hal.science/hal-03282716
SF ELIB - SuUB Bremen

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