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A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency.

Authors :
Hertzog, Ashley
Selvanathan, Arthavan
Halligan, Rebecca
Fazio, Timothy
de Jong, Gerard
Bratkovic, Drago
Bhattacharya, Kaustuv
Tolun, Adviye Ayper
Bennetts, Bruce
Fisk, Katrina
Source :
Journal of Inherited Metabolic Disease Reports; Jul2022, Vol. 63 Issue 4, p271-275, 5p
Publication Year :
2022

Details

Language :
English
ISSN :
21928312
Volume :
63
Issue :
4
Database :
Complementary Index
Journal :
Journal of Inherited Metabolic Disease Reports
Publication Type :
Academic Journal
Accession number :
157846810
Full Text :
https://doi.org/10.1002/jmd2.12289