Associated Papers
Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
Miao M et al.
Gene, 2024
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.
Xu Q et al.
Bmc Medical Genomics, 2018
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