Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C305*
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PHF6

NM_001015877.2:p.C305*

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

Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.

Cheng C et al.

Cell Reports, 2018

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."