eP431 - Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome

Journal article

Peer reviewed

Alissa Wlodaver, Edward Caparelli, Rebekah Turner, Mercedes Silva, Marisa Klein-Gitelman, Amer Khojah, Pamela Rathbun and Kai Lee Yap

Molecular genetics and metabolism, Vol.132, pp.S278-S278

04/2021

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Title: eP431 - Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome
Creators - without role: Alissa Wlodaver
Edward Caparelli
Rebekah Turner
Mercedes Silva
Marisa Klein-Gitelman
Amer Khojah
Pamela Rathbun
Kai Lee Yap
Publication Details: Molecular genetics and metabolism, Vol.132, pp.S278-S278
Publisher: Elsevier Inc
Identifiers: 9931763408331
Academic Unit: Umm Al Qura University
Language: English
Resource Type: Journal article