Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.M2145I
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CREBBP

NM_004380.3:p.M2145I

Associated Papers

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.

Yu L et al.

Frontiers in Immunology, 2024

39676859 (PubMed )
Supplement: Table1.docx
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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."