Varaico: Literature-Extracted Genetic Variants

Gene:DRG1
Variant:p.G54*
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DRG1

NM_004147.4:p.G54*

Associated Papers

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

Westrip CAE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Al-Nabhani M et al.

Clinical Genetics, 2018

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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."