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ArticleHuman genome variation2026

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

Saba Bibi et al.PubMed ↗Full text ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 42045154