Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.P820S
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CREBBP

NM_001079846.1:p.P820S

Associated Papers

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Unique molecular signatures as a hallmark of patients with metastatic breast cancer: implications for current treatment paradigms.

Wheler JJ et al.

Oncotarget, 2014

24811890 (PubMed )
Supplement: oncotarget-05-2349-s001.pdf

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

CREBBP mutations in relapsed acute lymphoblastic leukaemia.

Mullighan CG et al.

Nature, 2011

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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."