Associated Papers
The Genomic Landscape of Mucinous Breast Cancer.
Pareja F et al.
Journal of the National Cancer Institute, 2019
PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
Královicová J et al.
Nucleic Acids Research, 2018
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ et al.
European Journal of Human Genetics : Ejhg, 2017
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