Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

Cascajo-Almenara, Marivi V.; Juliá-Palacios, Natalia.; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M.; García-Díaz, Elena; Oliva, Clara; O´Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael

doi:10.1038/s41431-023-01526-2

Eur J Hum Genet

2024

DOI: 10.1038/s41431-023-01526-2

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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

Marivi V. Cascajo-Almenara,

Natalia. Juliá-Palacios,

Roser Urreizti

et al.

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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

Cited by 1 publication

References 27 publications

Artificial intelligence – the next generation of sequencing?

Artificial intelligence – the next generation of sequencing?

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