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Article

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.

American journal of medical genetics. Part A - 1 Nov 2020

Yamada Mamiko, Uehara Tomoko, Suzuki Hisato, Takenouchi Toshiki, Kosaki Kenjiro

Abstract excerpt

The PUF60 gene encodes a ubiquitously expressed essential splicing factor that is recruited to the U2snRNA complex. The complex binds to the 3' splice site of exons in specific target genes and regulates the inclusion or exclusion of such exons. Recently, pathogenic variants of PUF60 have been shown to cause a relatively specific and potentially recognizable pattern of malformation referred to as Verheij...

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PMID: 32851780
DOI: 10.1002/ajmg.a.61816

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