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Pathogenic variants in non-protein-coding sequences.

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Related Experiment Videos

A DNA polymorphism with KpnI of the human liver-type phosphofructokinase (PFKL) gene

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Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

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