Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.R70*
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GDI1

NM_001493.3:p.R70*

Associated Papers

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

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP et al.

Human Mutation, 2007

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

Bienvenu T et al.

Human Molecular Genetics, 1998

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

D'Adamo P et al.

Nature Genetics, 1998

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.

Curie A et al.

European Journal of Medical Genetics, 0

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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."