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Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2
Teranishi, Yu, Miyawaki, Satoru, Hongo, Hiroki, Dofuku, Shogo, Okano, Atsushi, Takayanagi, Shunsaku, Ota, Takahiro, Yoshimura, Jun, Qu, Wei, Mitsui, Jun, Nakatomi, Hirofumi, Morishita, Shinichi, TsujiJournal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2020-106973
Date:
October, 2020
Fichier:
PDF, 3.76 MB
2020