Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.S893*
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CREBBP

NM_004380.3:p.S893*

Associated Papers

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S2

Development and evaluation of ActSeq: A targeted next-generation sequencing panel for clinical oncology use.

Shi Z et al.

Plos One, 2022

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Yoo HJ et al.

International Journal of Molecular Sciences, 2015

25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf
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