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Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of AuâKline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
Yamada, Mamiko, Shiraishi, Yuichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, AbeâHatano, Chihiro, Kurosawa, Kenji, Kosaki, KenjiroJournal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.1364
Date:
June, 2020
File:
PDF, 506 KB
2020