Varaico: Literature-Extracted Genetic Variants

Gene:ALG11
Variant:p.R15T
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ALG11

NM_001004127.3:p.R15T

Associated Papers

A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Kart PO et al.

Neurogenetics, 2025

Progressive loss of cerebral structures in ALG11-related congenital disorder of glycosylation.

Fortin O et al.

Pediatric Neurology, 2025

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Mulkey SB et al.

Pediatric Neurology, 2019

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."