Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.D52N
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CDKN1A

NM_000389.5:p.D52N

Associated Papers

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Structural Connection between Activation Microswitch and Allosteric Sodium Site in GPCR Signaling.

White KL et al.

Structure (london, England : 1993), 2018

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V et al.

Human Mutation, 2007

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