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Unexpected Complexity in the Molecular Diagnosis of Spastic Paraplegia 11

Irene Mademont-Soler,Susanna Esteba-Castillo, Aida Jimenez-Xifra, Berta Alemany,Nuria Ribas-Vidal, Maria Cutillas,Monica Coll, Mel lina Pinsach,Sara Pagans,Mireia Alcalde,Marina Vinas-Jornet, Mercedes Montero-Vale, Marta de Castro-Miro,Jairo Rodriguez,Lluis Armengol,Xavier Queralt,Maria Obon

Molecular Genetics & Genomic Medicine(2024)

Cited 0|Views8
Key words
cis-regulatory elements,genetic diagnosis,spastic paraplegia 11,SPG11,whole transcriptome sequencing
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