Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Y240C
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PHF6

NM_001015877.2:p.Y240C

Associated Papers

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.

Kong T et al.

Nature Communications, 2025

39820365 (PubMed )
Supplement: 41467_2024_55643_MOESM3_ESM.xlsx › WashU_Cohort_RNAseq

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Jain V et al.

European Journal of Human Genetics : Ejhg, 2023

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL.

Blombery P et al.

Blood, 2022

34469514 (PubMed )
Supplement: mmc1.pdf

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

Martin ES et al.

American Journal of Hematology, 2021

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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."