Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q50_V51Splc
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CDKN2A

NM_000077.5:p.Q50_V51Splc

Associated Papers

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S10

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.

Ghiorzo P et al.

Journal of Medical Genetics, 2012

Contribution of susceptibility gene variants to melanoma risk in families from the Veneto region of Italy.

Menin C et al.

Pigment Cell & Melanoma Research, 2011

CDKN2A mutations and melanoma risk in the Icelandic population.

Goldstein AM et al.

Journal of Medical Genetics, 2008

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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."