Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R51P
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HPRT1

NM_000194.3:p.R51P

Associated Papers

Sequence-specific correction of genomic hypoxanthine-guanine phosphoribosyl transferase mutations in lymphoblasts by small fragment homologous replacement.

Bedayat B et al.

Oligonucleotides, 2010

Screening for molecular pathologies in Lesch-Nyhan syndrome.

Boyd M et al.

Human Mutation, 1993

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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."