Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.Y445*
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RAB3GAP1

NM_012233.3:p.Y445*

Associated Papers

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1

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

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT et al.

Human Mutation, 2013

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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."