Varaico: Literature-Extracted Genetic Variants

Gene:ALG11
Variant:p.A85V
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ALG11

NM_001004127.3:p.A85V

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

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

Uzunyayla-Inci G et al.

Molecular Syndromology, 2023

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Abu Bakar N et al.

Journal of Inherited Metabolic Disease, 2022

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