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Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation

18 Mar 2025

Abstract excerpt

Background SLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit further genetic and clinical research. We investigated the clinical and genetic aspects of patients with SLC29A3-RS. Methods Six pathogenic variants of the SLC29A3 gene were identified in eight families in the current...

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PMID: 40101970
DOI: 10.1136/jmg-2024-110606

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