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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG8

Variant:p.F422L

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ALG8

NM_024079.5:p.F422L

hg38:chr11:78104366 G>T

Associated Papers

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Albokhari D et al.

Journal of Inherited Metabolic Disease, 2022

35716054 (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."