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PLoS Genetics, ISSN 1553-7390, 03/2017, Volume 13, Issue 3, pp. e1006691 - e1006691
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
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 236 - 11
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non- coding... 
EVOLUTION | DE-NOVO MUTATIONS | GENETICS | MULTIDISCIPLINARY SCIENCES | DISEASE | GENES | GUIDELINES | SEQUENCE VARIANTS | RISK | SYNONYMOUS VARIANTS | Exome | Genetic Variation | Introns | Gene Frequency | Humans | Molecular Sequence Annotation | Databases, Genetic | Epilepsy - genetics | Pathogenicity | Pathogens | Splicing | Transcription | World Wide Web | Internet | Servers (computers) | Index Medicus
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2018, Volume 13, Issue 9, pp. e0204028 - e0204028
Whole genome wide identification and annotation of genetic variations in camels is in its first steps. The aim of this study was the identification of genome... 
FRAMEWORK | POLYMORPHISMS | SELECTION | MULTIDISCIPLINARY SCIENCES | CATTLE | Usage | Nucleotide sequencing | Genetic variation | Analysis | DNA sequencing | Index Medicus
Journal Article
Genomics, ISSN 0888-7543, 07/2019, Volume 111, Issue 4, pp. 869 - 882
The human genetic diseases associated with many factors, one of these factors is the non-synonymous Single Nucleotide Variants (nsSNVs) cause single amino acid... 
FATHMM | Pathogenic variants | SIFT | Non-synonymous SNVs (nsSNVs) | Computational techniques | Provean | iFish | Mutation Assessor | Meta classifier (CSTJ48) | PANTHER | PON P2 | Neutral variants | SNAP2 | SCORE | ANNOTATIONS | NONSYNONYMOUS SNVS | IMPACT | LEARNING APPROACH | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | CONSEQUENCES | MUTATIONS | TOOLS | Amino acids | Analysis | Methods | Machine learning
Journal Article