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Thiamine responsive MSUD due to splice altering variants: Confounding the genotype phenotype correlation.

Authors :
Billington, Charles
MacLeod, Erin
Jacobson, Jenny
Simpson, Kara
Mew, Nicholas Ah.
Grant, Christina
Berger, Seth
Source :
Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
Publication Year :
2024

Subjects

Subjects :
*GENOTYPES
*PHENOTYPES

Details

Language :
English
ISSN :
10967192
Volume :
141
Issue :
4
Database :
Academic Search Index
Journal :
Molecular Genetics & Metabolism
Publication Type :
Academic Journal
Accession number :
176440656
Full Text :
https://doi.org/10.1016/j.ymgme.2024.108183