Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.H43insFs
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PHF6

NM_001015877.2:p.H43insFs

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

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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."