The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
Journal article published in 2016 by
M. Á. Martín,
M. T. García‐Silva,
G. Barcia,
A. Delmiro,
M. E. Rodríguez‐García,
A. Blázquez,
R. Francisco‐Álvarez,
E. Martín‐Hernández,
P. Quijada‐Fraile,
P. Tejada‐Palacios,
J. Arenas 
,
C. Santos,
F. Martínez‐Azorín
,
C. Santos,
F. Martínez‐Azorín
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