Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.R1664L
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CREBBP

NM_004380.3:p.R1664L

Associated Papers

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Künzel R et al.

International Journal of Obesity (2005), 2025

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

A CRISPR/Cas9 Functional Screen Identifies Rare Tumor Suppressors.

Katigbak A et al.

Scientific Reports, 2016

27982060 (PubMed )
Supplement: srep38968-s2.xls › Sheet1
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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."