Varaico: Literature-Extracted Genetic Variants

Gene:USP7
Variant:p.L433I
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USP7

NM_003470.3:p.L433I

Associated Papers

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

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