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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPRT1

Variant:p.H204delFs

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HPRT1

NM_000194.3:p.H204delFs

hg38:chrX:134500030 CA>C

Associated Papers

GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.

Torres RJ et al.

International Journal of Rheumatic Diseases, 2018

29879316 (PubMed )

Delineation of the motor disorder of Lesch-Nyhan disease.

Jinnah HA et al.

Brain : a Journal of Neurology, 2006

16549399 (PubMed )

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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."