Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.R491*
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RAB3GAP1

NM_012233.3:p.R491*

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.

Alavi O et al.

Human Genome Variation, 2021

From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.

Mutlu Albayrak H et al.

American Journal of Medical Genetics. Part A, 2021

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Abdel-Hamid MS et al.

Clinical Genetics, 2020

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Picker-Minh S et al.

Orphanet Journal of Rare Diseases, 2014

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Morris-Rosendahl DJ et al.

European Journal of Human Genetics : Ejhg, 2010

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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."