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Parkinsonism and Related Disorders, ISSN 1353-8020, 05/2019, Volume 62, pp. 128 - 133
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism due to pathogenic mutations. Disease manifestations can be prevented if early... 
Breakpoint | ATP7B | Intragenic deletion | Wilson's disease | HOMOZYGOSITY | DIAGNOSIS | GENE | VARIANTS | CLASSIFICATION | CLINICAL NEUROLOGY | Medical colleges | Medical genetics | Genetic research | Physiological aspects | Genetic aspects | Nucleotide sequencing | DNA sequencing
Journal Article
Oncogene, ISSN 0950-9232, 11/2012, Volume 31, Issue 45, pp. 4759 - 4767
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 05/2017, Volume 8, Issue 3, pp. 118 - 130
Intragenic deletions of the contactin-associated protein-like 2 gene ( ) have been found in patients with Gilles de la Tourette syndrome, intellectual... 
Neurodevelopmental disorders | CNTNAP2 | Intragenic deletions | Review
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 237 - 242
GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic... 
ANTXR1 gene | Egyptian patients | novel mutations | GAPO syndrome | large intragenic deletion | GENETICS & HEREDITY | Glaucoma | Medical research | Gene mutations | Analysis | Genetic research | Medicine, Experimental | Genetic aspects | Atrophy | Alopecia | Optic atrophy | Growth rate | Baldness | Clonal deletion | Frameshift mutation | Extracellular matrix | Mutation | Gene deletion | Patients
Journal Article
Journal Article
Familial Cancer, ISSN 1389-9600, 1/2018, Volume 17, Issue 1, pp. 135 - 139
Journal Article