Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.S43G
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CDKN2A

NM_000077.5:p.S43G

Associated Papers

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

El Sissy FN et al.

Molecular Diagnosis & Therapy, 2025

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-supp10.xlsx › Appendix_1-table_10

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-11.pdf

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf

Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism.

Tevelev A et al.

Biochemistry, 1996

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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."