Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.W63R
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ALG8

NM_024079.5:p.W63R

Associated Papers

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.

İnci A et al.

American Journal of Medical Genetics. Part A, 2021

Phenotypic expansion illuminates multilocus pathogenic variation.

Karaca E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."