| Title: |
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia |
| Authors: |
Mavillard, Fabiola a, b, 1, Guerra-Castellano, Alejandra c, 1, Guerrero-Gómez, David d, Rivas, Eloy e, Cantero, Gloria a, b, Servian-Morilla, Emilia a, b, Folland, Chiara f, Ravenscroft, Gianina f, Martín, Miguel A. g, h, Miranda-Vizuete, Antonio d, Cabrera-Serrano, Macarena a, b, Diaz-Moreno, Irene c, ⁎, Paradas, Carmen a, b, ⁎⁎ |
| Source: |
In BBA - Molecular Basis of Disease October 2024 1870(7) |
| Database: |
ScienceDirect |
