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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED25

Variant:p.E481_S482insFs

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MED25

NM_030973.4:p.E481_S482insFs

hg38:chr19:49832375 A>AG

Associated Papers

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Kure S et al.

Human Mutation, 2006

16450403 (PubMed )

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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."