Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.P51fs
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PURA

NM_005859.5:p.P51fs

Associated Papers

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b

Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.

Spangenberg L et al.

Molecular Genetics & Genomic Medicine, 2021

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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."