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Exploring genotype-phenotype correlations in glutaric aciduria type 1.
J Inherit Metab Dis. 2023 May;46(3):371-390. doi: 10.1002/jimd.12608. Epub 2023 Apr 16.
J Inherit Metab Dis. 2023.
PMID: 37020324
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.
Arteche-López A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de la Fuente RP, Gómez PR, Merlo JG, Burgos LH, Fernández CC, Rosales JML, Martínez JFG, Quesada-Espinosa JF, Corton M, Guerrero-Molina MP.
Arteche-López A, et al. Among authors: de la fuente rp.
Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3.
Clin Genet. 2023.
PMID: 36250766
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