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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPRT1

Variant:p.R4fs

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HPRT1

NM_000194.3:p.R4fs

hg38:chrX:134460321 CGC>N

Associated Papers

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.

Roza E et al.

Maedica, 2023

37588833 (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."