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The American Journal of Human Genetics, ISSN 0002-9297, 04/2011, Volume 88, Issue 4, pp. 499 - 507
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine... 
CELLS | OVEREXPRESSION | LOCALIZATION | CLONING | MEMBRANE | GENETICS & HEREDITY | TRAFFICKING | GTPASE-ACTIVATING PROTEIN | NONCATALYTIC SUBUNIT | LIPID DROPLETS | SUBFAMILY | Abnormalities, Multiple - metabolism | Haplotypes | Sequence Deletion | Microcephaly - genetics | Humans | Molecular Sequence Data | Male | rab GTP-Binding Proteins - genetics | Mutation, Missense | Intellectual Disability - genetics | Intellectual Disability - metabolism | Founder Effect | DNA Mutational Analysis | Hypogonadism - metabolism | Optic Atrophy - metabolism | Base Sequence | Female | Abnormalities, Multiple - genetics | Optic Atrophy - genetics | rab GTP-Binding Proteins - metabolism | Amino Acid Sequence | Microcephaly - metabolism | Mutant Proteins - genetics | Models, Molecular | Mutant Proteins - metabolism | Cataract - metabolism | Hypogonadism - genetics | Sequence Homology, Amino Acid | rab3 GTP-Binding Proteins - genetics | Cornea - metabolism | Phenotype | Cataract - congenital | Pedigree | Protein Binding | Cataract - genetics | rab GTP-Binding Proteins - chemistry | Consanguinity | Cornea - abnormalities | Mutation | Codon, Terminator | Amino Acid Substitution | Chromosome mapping | Usage | Gene mutations | Micro syndrome | Endocrine gland diseases | Causes of | Genetic aspects | Health aspects | Proteins | Neurotransmitters | Pathogenesis | Neurodegeneration | Genes | Hormones | Neurological disorders | Index Medicus | Report
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2010, Volume 42, Issue 4, pp. 303 - 312
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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 4, pp. 1165 - 1177
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Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
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Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 521 - 529
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Human Mutation, ISSN 1059-7794, 12/2012, Volume 33, Issue 12, pp. 1656 - 1664
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Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, pp. 474 - 482
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