Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families
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Title
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families
Authors
Keywords
-
Journal
Orphanet Journal of Rare Diseases
Volume 18, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2023-11-03
DOI
10.1186/s13023-023-02946-5
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