Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.E461K
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PKLR

NM_000298.6:p.E461K

Associated Papers

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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