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ArticleMolecular biology reports2024

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.

Assia Idyahia et al.PubMed ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 39052101