Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.R347*
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PHF6

NM_001015877.2:p.R347*

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Molecular Profiling of Sinonasal Adenoid Cystic Carcinoma: Canonical and Noncanonical Gene Fusions and Mutation.

Skálová A et al.

The American Journal of Surgical Pathology, 2025

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Vos N et al.

Human Genetics, 2024

38787418 (PubMed )
Supplement: 439_2024_2679_MOESM3_ESM.xlsx › S5_Prediction_scores

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

29988082 (PubMed )
Supplement: NIHMS77608-supplement-Supplementary_Table_2.xlsx › 2.1_DC_ARCH-PD
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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."