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ReviewMedicine2026

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.

Xuxia Cui et al.PubMed ↗Full text ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 42065149