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Porphyria-associated genetic variation in heme biosynthesis genes: clinical manifestations and associations with clonal hematopoiesis in the UK Biobank
Oct 22, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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Inherited metabolic diseases mimicking hereditary spastic paraplegia: a cohort of ten Egyptian patients
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PIK3R2-related megalencephaly syndrome: expanded phenotypic spectrum associated with craniosynostosis
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