Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.M382T
Back to variants list

ALG1

NM_019109.5:p.M382T

Associated Papers

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Xue Y et al.

Molecular Genetics & Genomic Medicine, 2023

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

Öncül Ü et al.

Molecular Syndromology, 2022

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

González-Domínguez CA et al.

Frontiers in Genetics, 2021

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG et al.

Human Mutation, 2016

ALG1-CDG: a new case with early fatal outcome.

Rohlfing AK et al.

Gene, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."