Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L49F
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HPRT1

NM_000194.3:p.L49F

Associated Papers

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

Jang G et al.

Molecular Therapy. Nucleic Acids, 2023

36910714 (PubMed )
Supplement: mmc1.pdf

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

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

Fu R et al.

Brain : a Journal of Neurology, 2014

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

de Gemmis P et al.

Mutation Research, 2010

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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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."