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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPRT1

Variant:p.V9_I10Splc

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HPRT1

NM_000194.3:p.V9_I10Splc

hg38:chrX:134460339 G>A

Associated Papers

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

Fu R et al.

Brain : a Journal of Neurology, 2014

23975452 (PubMed )

Attenuated variants of Lesch-Nyhan disease.

Jinnah HA et al.

Brain : a Journal of Neurology, 2010

20176575 (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."