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1 Ergebnisse
1
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syn..:
Arteche‐López, Ana
;
Avila‐Fernandez, Almudena
;
Damian, Alejandra
...
Clinical Genetics. 103 (2022) 2 - p. 236-241 , 2022
Link:
https://doi.org/10.1111/cge.14249
RT Journal T1
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14249&Exemplar=1&LAN=DE A1 Arteche‐López, Ana A1 Avila‐Fernandez, Almudena A1 Damian, Alejandra A1 Soengas‐Gonda, Emma A1 de la Fuente, Rubén Pérez A1 Gómez, Patricia Ramos A1 Merlo, Jesús Gallego A1 Burgos, Laura Horcajada A1 Fernández, Carlos Cemillán A1 Rosales, Jose Miguel Lezana A1 Martínez, Juan Francisco González A1 Quesada‐Espinosa, Juan Francisco A1 Corton, Marta A1 Guerrero‐Molina, Maria Paz PB Wiley YR 2022 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 103 IS 2 SP 236 OP 241 LK http://dx.doi.org/https://doi.org/10.1111/cge.14249 DO https://doi.org/10.1111/cge.14249 SF ELIB - SuUB Bremen
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