Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R322Splc
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PKLR

NM_000298.6:p.R322Splc

Associated Papers

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

Gök V et al.

British Journal of Haematology, 2024

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