Novel human pathological mutations

Dolores Martínez‐Rubio1, José María Millán1, Francesc Palau1, Carmen Espinós1
1CIBER de Enfermedades Raras (CIBERER), Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, c/ Jaume Roig, 11, 46010, Valencia, Spain

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