Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q2211_Q2213del0
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CREBBP

NM_004380.3:p.Q2211_Q2213del0

Associated Papers

A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature.

Kim JW et al.

Annals of Dermatology, 2023

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S9

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Kooi IE et al.

Scientific Reports, 2016

27126562 (PubMed )
Supplement: srep25264-s3.xls › somaticVariants
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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."