Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.E47G
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HPRT1

NM_000194.3:p.E47G

Associated Papers

In-silico prediction of TGF-β1 non-synonymous variants and their impact on binding affinity to Fresolimumab.

Ramzan A et al.

Journal of Biomolecular Structure & Dynamics, 2024

Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

Fu R et al.

Molecular Genetics and Metabolism, 2015

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Fu R et al.

Brain : a Journal of Neurology, 2014

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Fu R et al.

The Journal of Biological Chemistry, 2012

Delineation of the motor disorder of Lesch-Nyhan disease.

Jinnah HA et al.

Brain : a Journal of Neurology, 2006

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.

Cole J et al.

Mutation Research, 1994

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