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A novel variant of MIEF2 gene expands the clinical spectrum of combined oxidative phosphorylation deficiency 49
Oct 1, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population
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The clinical spectrum of PASS syndrome in hidradenitis suppurativa: findings from a systematic review
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