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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Document Type

Article

Author

Schoch, K.; Tan, Q.K.-G.; McConkie-Rosell, A.; McDonald, M.T.; Jiang, Y.-H.; Shashi, V.; Stong, N.; Goldstein, D.B.; Deak, K.L.

Source

In: Genetics in Medicine. (Genetics in Medicine, 1 July 2020, 22(7):1269-1275)

Subject

Language

English

ISSN

15300366
10983600

Online Access

Full Text (ScienceDirect) Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

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