Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.M1insFs
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GCSH

NM_004483.5:p.M1insFs

Associated Papers

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Arribas-Carreira L et al.

Human Molecular Genetics, 2023

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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."