Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes

*Correspondence to: Javier Alonso, OncoLab, Departamento de Biologia Molecular y Celular del Cancer, Instituto de Investigaciones Biomedicas “A. Sols”, CSIC-UAM, C/ Arturo Duperier 4, 28029 Madrid, Spain; Tel.: 34 91 585 4418; Fax: 34 91 585 4401; E-mail: jalonso@iib.uam.es Grant sponsor: Fondo de Investigacion Sanitaria (Grant number PI150128) and Ministerio de Educacion y Ciencia (Grant number SAF2005-00946). Angelo Gamez-Pozo is a predoctoral fellow from the Ministerio de Educacion y Ciencia, Itziar Palacios was supported by a contract from the Comunidad de Madrid and FGUAM, and Milica Kontic and Ibis Menendez were supported with UICC grants.