Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.G104delFs
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CDKN1A

NM_000389.5:p.G104delFs

Associated Papers

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Kaminska K et al.

American Journal of Human Genetics, 2025

40081374 (PubMed )
Supplement: mmc5.pdf

Next-generation sequencing of urine specimens: A novel platform for genomic analysis in patients with non-muscle-invasive urothelial carcinoma treated with bacille Calmette-Guérin.

Scott SN et al.

Cancer Cytopathology, 2017

Detection of TP53 dysfunction in chronic lymphocytic leukemia by an in vitro functional assay based on TP53 activation by the non-genotoxic drug Nutlin-3: a proposal for clinical application.

Pozzo F et al.

Journal of Hematology & Oncology, 2013

24283248 (PubMed )
Supplement: 1756-8722-6-83-S1.pdf
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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."