Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.R132H
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AASS

NM_005763.4:p.R132H

Associated Papers

Impairment of Tricarboxylic Acid Cycle (TCA) Cycle in Alzheimer's Disease: Mechanisms, Implications, and Potential Therapies.

Mohan GS et al.

Aging and Disease, 2025

Mitochondrial DNA Changes in Respiratory Complex I Genes in Brain Gliomas.

Kozakiewicz P et al.

Biomedicines, 2023

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Cancer-associated IDH mutations: biomarker and therapeutic opportunities.

Yen KE et al.

Oncogene, 2010

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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."