Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB1
Variant:p.R279H
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PFKFB1

NM_002625.4:p.R279H

Associated Papers

Loss of histone reader Phf7 leads to immune pathways activation via endogenous retroviruses during spermiogenesis.

Cheng J et al.

Iscience, 2023

37920670 (PubMed )
Supplement: mmc4.xlsx › Sheet1

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM9_ESM.xlsx › Supplementary_table_8
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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."