Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.A1944fs
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CREBBP

NM_004380.3:p.A1944fs

Associated Papers

Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

Gold JI et al.

American Journal of Human Genetics, 2025

40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.

Fei F et al.

Oncotarget, 2025

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.

Gold J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.

Liu Y et al.

Cancers, 2022

36230837 (PubMed )
Supplement: cancers-14-04914-s001.zip › cancers-1924136-supplementary.xlsx › Supplemental_Table_2

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
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