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Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Hum Mol Genet. 2023 Mar 6;32(6):897-906. doi: 10.1093/hmg/ddac224.
Hum Mol Genet. 2023.
PMID: 36130218
Free PMC article.
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA; Spanish HD Collaborative Group; Monckton DG, Ramos-Arroyo MA.
Ruiz de Sabando A, et al.
Eur J Hum Genet. 2024 Mar 4. doi: 10.1038/s41431-024-01546-6. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38433266
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