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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NGLY1

Variant:p.R328S

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NGLY1

NM_018297.4:p.R328S

hg38:chr3:25737355 G>T

Associated Papers

Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.

Yuan S et al.

Heliyon, 2024

38628705 (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."