Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.L127F
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GCSH

NM_004483.5:p.L127F

Associated Papers

A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.

Hamilton D et al.

Blood, 2003

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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."