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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPI

Variant:p.T381_T384del4

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MPI

NM_002435.3:p.T381_T384del4

hg38:chr15:74897597 GCACACCCACAAC>G

Associated Papers

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Dardas Z et al.

American Journal of Human Genetics, 2025

40267907 (PubMed )

Supplement: mmc3.pdf

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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."