Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A409V
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PKLR

NM_000298.6:p.A409V

Associated Papers

[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase].

Clavier M et al.

Journal De Genetique Humaine, 1986

[Splenectomized pyruvate kinase deficiency hemolytic anemia with positive Coombs' test: report of a case with family study (author's transl)].

Kojima S et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1979

[Metabolic studies in a family with 3 cases of congenital non-spherocytic hemolytic anemia with a pyruvate kinase deficiency].

Busch D

Folia Haematologica; Internationales Magazin Fur Blutforschung, 1964

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."