Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Q30*
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PHF6

NM_001015877.2:p.Q30*

Associated Papers

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

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

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

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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."