PDF) Identification of de novo EP300 and PLAU variants in a
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Mutations truncating the EP300 acetylase in human cancers

Epigenetic mechanisms to propagate histone acetylation by p300/CBP

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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
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