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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COG6

Variant:p.Q558*

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COG6

NM_020751.3:p.Q558*

hg38:chr13:39723420 C>T

Associated Papers

COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.

Zhang XY et al.

Human Mutation, 2024

40225945 (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."