Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.S138C
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PHF6

NM_001015877.2:p.S138C

Associated Papers

Loss of PHF6 leads to aberrant development of human neuron-like cells.

Fliedner A et al.

Scientific Reports, 2020

A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.

Bellad A et al.

Journal of Molecular Neuroscience : Mn, 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."