Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Y2108*
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CREBBP

NM_004380.3:p.Y2108*

Associated Papers

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

Functional analysis of a novel pathogenic variant in CREBBP associated with bone development.

Fang Q et al.

Pediatric Research, 2024

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_S3

Genetic analysis of neurodevelopmental disorders in children.

Wu D et al.

Frontiers in Child and Adolescent Psychiatry, 2022

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Sentchordi-Montané L et al.

European Journal of Endocrinology, 2021

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Van Gils J et al.

Genes, 2021

34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
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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."