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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHF8

Variant:p.E656fs

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PHF8

NM_015107.3:p.E656fs

hg38:chrX:53987107 TTC>N

Associated Papers

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Sobering AK et al.

Hgg Advances, 2022

35469323 (PubMed )

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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."