Varaico: Literature-Extracted Genetic Variants

Gene:GFPT1
Variant:p.I119I
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GFPT1

NM_001244710.2:p.I119I

Associated Papers

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Vaes L et al.

Jimd Reports, 2020

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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."