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ArticleClinical case reports2026

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.

Eriko Nishi et al.PubMed ↗Full text ↗Publisher ↗

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2026
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Full record →Abstract, authors, funding and every citing paper · PMID 41479428