Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.
Geckinli B et al.
Clinical Dysmorphology, 2023
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
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
Tasdemir S et al.
Genetic Counseling (geneva, Switzerland), 2015
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 2014
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
Warburg Micro syndrome.
Dursun F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
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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