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A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay

Document Type

Article

Author

Mo, A.; Shao, D.D.; Paz-Ebstein, E.; Yanovsky-Dagan, S.; Mor-Shaked, H.; Harel, T.; Gilboa, T.; Lai, A.; Walsh, C.A.; Yang, E.

Source

In: Clinical Genetics. (Clinical Genetics, July 2023, 104(1):73-80)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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