Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.R423P
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GDI1

NM_001493.3:p.R423P

Associated Papers

Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics.

Potokar M et al.

Molecular Neurobiology, 2017

An extended set of yeast-based functional assays accurately identifies human disease mutations.

Sun S et al.

Genome Research, 2016

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Strobl-Wildemann G et al.

American Journal of Medical Genetics. Part A, 2011

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Bienvenu T et al.

Human Molecular Genetics, 1998

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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."