Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
van Wijk R et al.
Human Mutation, 2009
Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn.
Raphaël MF et al.
American Journal of Hematology, 2007
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