Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.K55*
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HPRT1

NM_000194.3:p.K55*

Associated Papers

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Holm LL et al.

Nucleic Acids Research, 2024

38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX et al.

Nature Genetics, 2001

Splicing mutations at the HPRT locus in human T-lymphocytes in vivo.

Osterholm AM et al.

Environmental and Molecular Mutagenesis, 1998

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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."