Varaico: Literature-Extracted Genetic Variants

Gene:APEH
Variant:p.K219R
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APEH

NM_001640.4:p.K219R

Associated Papers

Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.

Corrons JL et al.

British Journal of Haematology, 2001

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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."