Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q50_V51Splc
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CDKN2A

NM_000077.5:p.Q50_V51Splc

Associated Papers

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

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Harland M et al.

Hereditary Cancer in Clinical Practice, 2014

25780468 (PubMed )
Supplement: 13053_2014_472_MOESM2_ESM.xlsx › Sheet1
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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."