Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.T441M
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HAP1

NM_177977.3:p.T441M

Associated Papers

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

Genetic modifiers of age-at-onset in polyglutamine diseases.

Chen Z et al.

Ageing Research Reviews, 2018

Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.

Kumar S et al.

Journal of Genetics, 2018

Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

Lee SM et al.

Plos One, 2016

27341347 (PubMed )
Supplement: pone.0157540.s005.xlsx › Table_S5

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Age at onset in Huntington's disease: replication study on the association of HAP1.

Karadima G et al.

Parkinsonism & Related Disorders, 2012

Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients.

Tsai YC et al.

Bmc Medical Genetics, 2012

Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.

Taherzadeh-Fard E et al.

Neurogenetics, 2010

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.

Metzger S et al.

Human Molecular Genetics, 2008

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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."