Varaico: Literature-Extracted Genetic Variants

Gene:NGLY1
Variant:p.G220S
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NGLY1

NM_018297.4:p.G220S

Associated Papers

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Smith ED et al.

Human Mutation, 2017

28106320 (PubMed )
Supplement: HUMU-38-600-s001.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."