Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.N1978D
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CREBBP

NM_004380.3:p.N1978D

Associated Papers

Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Fan Y et al.

Scientific Reports, 2018

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bentivegna A et al.

Bmc Medical Genetics, 2006

CBP truncating mutations in ovarian cancer.

Ward R et al.

Journal of Medical Genetics, 2005

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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."