Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.R113H
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ALG6

NM_013339.4:p.R113H

Associated Papers

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Dercksen M et al.

Jimd Reports, 2013

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Haeuptle MA et al.

Human Mutation, 2009

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.

Eklund EA et al.

Biochemical and Biophysical Research Communications, 2006

Cerebral blood flow and benzodiazepine receptor distribution in a patient with ALG6-congenital disorder of glycosylation.

Matsuura R et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."