Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.
Alcázar-Fabra M, Østergaard E, Fernández-Ayala DJM, Desbats MA, Morbidoni V, Tomás-Gallado L, García-Corzo L, Blanquer-Roselló MDM, Bartlett AK, Sánchez-Cuesta A, Sena L, Cortés-Rodríguez A, Cascajo-Almenara MV, Pagliarini DJ, Trevisson E, Gronborg SW, Brea-Calvo G.
Alcázar-Fabra M, et al. Among authors: cortes rodriguez a.
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PMID: 39759098
Free PMC article.