Varaico: Literature-Extracted Genetic Variants

Gene:ALG11
Variant:p.N375fs
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ALG11

NM_001004127.3:p.N375fs

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

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

Mulkey SB et al.

Pediatric Neurology, 2019

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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."