Varaico: Literature-Extracted Genetic Variants

Gene:USP7
Variant:p.Y331C
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USP7

NM_003470.3:p.Y331C

Associated Papers

Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.

Wimmer MC et al.

Clinical Genetics, 2024

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

van der Laan L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder.

Zheng H et al.

Frontiers in Molecular Neuroscience, 2022

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