Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.K276R
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PHF6

NM_001015877.2:p.K276R

Associated Papers

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
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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."