Varaico: Literature-Extracted Genetic Variants

Gene:DIP2C
Variant:p.R253W
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DIP2C

NM_014974.3:p.R253W

Associated Papers

Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy.

Yang L et al.

American Journal of Medical Genetics. Part A, 2022

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.

Cerminara M et al.

Frontiers in Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."