Varaico: Literature-Extracted Genetic Variants

Gene:PHF2
Variant:p.Q1042H
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PHF2

NM_005392.4:p.Q1042H

Associated Papers

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

Barrell WB et al.

European Journal of Human Genetics : Ejhg, 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."