Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.L195P
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ALG8

NM_024079.5:p.L195P

Associated Papers

Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.

Uzunyayla-Inci G et al.

Molecular Syndromology, 2023

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Dang Do AN et al.

Journal of Inherited Metabolic Disease, 2023

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

Albokhari D et al.

Journal of Inherited Metabolic Disease, 2022

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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."