Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R167T
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HPRT1

NM_000194.3:p.R167T

Associated Papers

Discovering functionally important sites in proteins.

Cagiada M et al.

Nature Communications, 2023

Identification of novel mutations in the human HPRT gene.

Nguyen KV et al.

Nucleosides, Nucleotides & Nucleic Acids, 2013

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

Taylor C et al.

International Journal of Oncology, 2012

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

Fu R et al.

The Journal of Biological Chemistry, 2012

Attenuated variants of Lesch-Nyhan disease.

Jinnah HA et al.

Brain : a Journal of Neurology, 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."