Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.S267P
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ALG8

NM_024079.5:p.S267P

Associated Papers

ALG8-CDG: novel patients and review of the literature.

Höck M et al.

Orphanet Journal of Rare Diseases, 2015

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

Sorte H et al.

European Journal of Medical Genetics, 2012

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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."