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A second hotspot for pathogenic exon-skipping variants in CDC45

Document Type

Article

Author

Schoch, K.; Shashi, V.; Ruegg, M.S.G.; Fellows, B.J.; Brown, C.M.; Bicknell, L.S.; Cao, J.; Uhrig, S.; Einsele-Scholz, S.; Biskup, S.; Hawarden, S.R.A.; Salpietro, V.; Capra, V.; Accogli, A.

Source

In: European Journal of Human Genetics. (European Journal of Human Genetics, 2024)

Subject

Language

English

ISSN

14765438
10184813

Online Access

Web of Science JCR 저널정보 Scopus Find it@PNU

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