Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A392T
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PKLR

NM_000298.6:p.A392T

Associated Papers

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök V et al.

British Journal of Haematology, 2024

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Kager L et al.

Pediatric Blood & Cancer, 2016

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