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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC39A8

Variant:p.F203S

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SLC39A8

NM_001135146.2:p.F203S

hg38:chr4:102305056 A>G

Associated Papers

Clinical, molecular and glycophenotype insights in SLC39A8-CDG.

Bonaventura E et al.

Orphanet Journal of Rare Diseases, 2021

34246313 (PubMed )

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

Park JH et al.

Journal of Inherited Metabolic Disease, 2020

32852845 (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."