Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.A1996A
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CREBBP

NM_004380.3:p.A1996A

Associated Papers

Hepatic CBP/p300 Orchestrate Amino Acid-Driven Gluconeogenesis through Histone Crotonylation.

Sheng C et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40791184 (PubMed )
Supplement: ADVS-12-e07635-s002.zip › 5-Table_S1_V2.xlsx › Crebbp_AA_full

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Schorry EK et al.

American Journal of Medical Genetics. Part A, 2008

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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."