Varaico: Literature-Extracted Genetic Variants

Gene:PHF8
Variant:p.S577Splc
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PHF8

NM_015107.3:p.S577Splc

Associated Papers

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Smal N et al.

European Journal of Human Genetics : Ejhg, 2024

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

Sobering AK et al.

Hgg Advances, 2022

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Berg AT et al.

Jama Pediatrics, 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."