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Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
Nephrol Dial Transplant. 2024 Jan 4:gfae002. doi: 10.1093/ndt/gfae002. Online ahead of print.
Nephrol Dial Transplant. 2024.
PMID: 38178635
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: rosales jml.
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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A novel mutation in the β-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site.
Salas PC, Rosales JM, Milla CP, Montiel JL, Siles JL.
Salas PC, et al.
Hum Genome Var. 2015 Aug 27;2:15029. doi: 10.1038/hgv.2015.29. eCollection 2015.
Hum Genome Var. 2015.
PMID: 27081538
Free PMC article.
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