Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.V97insFs
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HPRT1

NM_000194.3:p.V97insFs

Associated Papers

Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.

Bell S et al.

Stem Cell Reports, 2021

34214487 (PubMed )
Supplement: mmc1.pdf
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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."