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Gene, ISSN 0378-1119, 06/2018, Volume 660, pp. 13 - 17
Biallelic mutations cause infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2), which is characterized by hypotonia,... 
UNC80 | Whole exome sequencing | Developmental delay | Medical colleges | Phenotype | Genetic aspects | Epilepsy | Medical genetics | Index Medicus
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 1 - 14
The excitability of neurons is tightly dependent on their ion channel repertoire. Among these channels, the leak sodium channel NALCN plays a crucial role in... 
UNC80 | CALCIUM-CHANNELS | EXCITABILITY | SEVERE INTELLECTUAL DISABILITY | HYPOTONIA | MULTIDISCIPLINARY SCIENCES | SODIUM LEAK CHANNEL | CATION CHANNEL | BIALLELIC MUTATIONS | CONTRIBUTES | CHANNELOPATHIES | Missense mutation | Calcium | Voltage | Excitability | Membrane potential | Mutation | Mental retardation | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
Human Genetics, ISSN 0340-6717, 9/2018, Volume 137, Issue 9, pp. 753 - 768
Journal Article
Cureus, ISSN 2168-8184, 04/2019, Volume 11, Issue 4, p. e4395
We report a three-year-old child with a rare genetic phenomenon, a UNC80 mutation, who had an unusual presentation of viral gastroenteritis. The UNC80 gene... 
Pneumonia | Infections | Family medical history | Patients | Fever | Abdomen | Proteins | Ostomy | Hospitals | Polyethylene glycol | Mutation | Chromosomes | Constipation | Viral infections
Journal Article
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