Varaico: Literature-Extracted Genetic Variants

Gene:PHF8
Variant:p.R211*
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PHF8

NM_015107.3:p.R211*

Associated Papers

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

Sobering AK et al.

Hgg Advances, 2022

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

Structural insights into a novel histone demethylase PHF8.

Yu L et al.

Cell Research, 2010

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

Koivisto AM et al.

Clinical Genetics, 2007

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

Laumonnier F et al.

Journal of Medical Genetics, 2005

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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."