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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Christel Depienne

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Open access Aug 2026

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

Disease progression in SCA27B is characterised by mild progression, ageing-related motor variabilities and comorbidities, and associated with repeat size on both alleles, and associated with repeat size on both alleles.

A. Traschütz, Ralf-Dieter Hilgers, F. Erdlenbruch et al. · 0 citations
Open access Aug 2026

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

The first guidance for clinical variant classification in snRNA genes is provided and it is anticipated that this will support routine screening and analysis of snRNA genes in clinical genetic testing.

Elston N. D'souza, A. Blakes, Robin Paluch et al. · 0 citations
Jun 2026

RBMX functional retrocopy safeguards brain development in a species-dependent context.

It is demonstrated that RBMX and RBMXL1 share protein and RNA partners and act redundantly in brain development, with RBMXL1 buffering the impact of RBMX deficiency and establishing RBMXL1 as a functional paralog of RBMX that is likely buffering deleterious variation in a context- and dosage-dependent manner.

P. Tilliole, C. Mattausch, Peggy Tilly et al. · 0 citations

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