Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.I2998S
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HTT

NM_001388492.1:p.I2998S

Associated Papers

Implications of mtDNA in human health and diseases.

Seethashankar S et al.

Biotechnologia, 2025

Clinical Insights into Mitochondrial Neurodevelopmental and Neurodegenerative Disorders: Their Biosignatures from Mass Spectrometry-Based Metabolomics.

Li H et al.

Metabolites, 2021

Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration.

Zheng X et al.

Elife, 2016

Mitochondrial myopathies in adults and children: management and therapy development.

Pitceathly RD et al.

Current Opinion in Neurology, 2014

The role of mitochondria in inherited neurodegenerative diseases.

Kwong JQ et al.

Journal of Neurochemistry, 2006

Primary and secondary defects of the mitochondrial respiratory chain.

Schapira AH

Journal of Inherited Metabolic Disease, 2002

Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases.

Hanna MG et al.

Cellular and Molecular Life Sciences : Cmls, 1999

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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."