Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.M1delFs
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HPRT1

NM_000194.3:p.M1delFs

Associated Papers

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.

Borlot F et al.

Pediatric Neurology, 2013

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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."