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Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders

Document Type

Article

Author

Bryen, S.J.; Zhang, K.; Dziaduch, G.; Bommireddipalli, S.; Waddell, L.B.; O'Grady, G.L.; Evesson, F.J.; Cooper, S.T.; Naseri, T.; Reupena, M.S.; Viali, S.; Minster, R.L.; Charlton, A.

Source

In: Clinical Genetics. (Clinical Genetics, May 2023, 103(5):553-559)

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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