Varaico: Literature-Extracted Genetic Variants

Gene:ALG2
Variant:p.G80D
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ALG2

NM_033087.4:p.G80D

Associated Papers

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.

Ehrstedt C et al.

Neuromuscular Disorders : Nmd, 2022

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › 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."