Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.A550delFs
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CREBBP

NM_004380.3:p.A550delFs

Associated Papers

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Colombo EA et al.

International Journal of Molecular Sciences, 2018

29642415 (PubMed )
Supplement: ijms-19-01103-s001.docx
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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."