Associated Papers
PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Maciak K et al.
Blood Cells, Molecules & Diseases, 2024
A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.
Sivashangar A et al.
Journal of Medical Case Reports, 2021
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