Varaico: Literature-Extracted Genetic Variants

Gene:PHF8
Variant:p.R653*
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PHF8

NM_015107.3:p.R653*

Associated Papers

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

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

Sobering AK et al.

Hgg Advances, 2022

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