Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.T300A
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PHF6

NM_001015877.2:p.T300A

Associated Papers

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

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Gerber CB et al.

Clinical Genetics, 2022

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.

Todd MA et al.

Genes, 2015

Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.

Liu Z et al.

The Journal of Biological Chemistry, 2014

Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.

Wang Q et al.

Haematologica, 2011

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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."