Varaico: Literature-Extracted Genetic Variants

Gene:DAO
Variant:p.R199Q
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DAO

NM_001917.5:p.R199Q

Associated Papers

Structural and mechanistic insights into ALS patient derived mutations in D-amino acid oxidase.

Khan S et al.

International Journal of Biological Macromolecules, 2024

Characterization of E121K mutation of D-amino acid oxidase - Insights into mechanisms leading to amyotrophic lateral sclerosis.

Dave U et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2023

D-amino acid oxidase (DAO) rare genetic missense variant p.Pro103Leu and gastric cancer.

Zong Y et al.

Molecular and Clinical Oncology, 2021

Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.

Padhi AK et al.

Scientific Reports, 2020

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Mehta PR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Insights into the role of d-amino acid oxidase mutations in amyotrophic lateral sclerosis.

Padhi AK et al.

Journal of Cellular Biochemistry, 2019

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Narain P et al.

Neurobiology of Aging, 2018

Biochemical Properties of Human D-amino Acid Oxidase Variants and Their Potential Significance in Pathologies.

Sacchi S et al.

Frontiers in Molecular Biosciences, 2018

Human D-Amino Acid Oxidase: Structure, Function, and Regulation.

Pollegioni L et al.

Frontiers in Molecular Biosciences, 2018

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

Structure-function relationships in human d-amino acid oxidase variants corresponding to known SNPs.

Cappelletti P et al.

Biochimica Et Biophysica Acta, 2015

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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."