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Paper Details

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
Clin Genet
16
2017
Author NameAffiliation
Angela Del Pozo
Angela Del PozoInstituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Kristina Iba??ez
Kristina Iba??ezInstituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Juli??n Nevado
Juli??n NevadoInstituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Pablo LapunzinaSeccion de genetica clinica, Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Pablo Lapunzina
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