Varaico: Literature-Extracted Genetic Variants

Gene:GLT8D1
Variant:p.R92C
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GLT8D1

NM_018446.4:p.R92C

Associated Papers

Glycosyltransferase 8 domain-containing protein 1 (GLT8D1) is a UDP-dependent galactosyltransferase.

Vicente JB et al.

Scientific Reports, 2023

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy.

Wang H et al.

Frontiers in Neuroscience, 2023

Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis.

Zhou W et al.

Frontiers in Neuroscience, 2023

Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Kirola L et al.

Molecular Neurobiology, 2022

Genetic and Functional Analysis of Glycosyltransferase 8 Domain-Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis.

Tsai PC et al.

Neurology. Genetics, 2021

GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients.

Yilihamu M et al.

Neurobiology of Aging, 2021

Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.

Chan Moi Fat S et al.

Neurobiology of Aging, 2021

Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China.

Li W et al.

Neurobiology of Aging, 2020

Theme 2 Genetics and genomics.

Roggenbuck J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019

Update on amyotrophic lateral sclerosis genetics.

Brenner D et al.

Current Opinion in Neurology, 2019

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.

Cooper-Knock J et al.

Cell Reports, 2019

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."