Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.*302W
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CYB5R3

NM_000398.7:p.*302W

Associated Papers

A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.

He KY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

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