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Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1030 - 1038
The growing availability of human genetic variation has given rise to novel methods of measuring genetic tolerance that better interpret variants of unknown... 
pathogenicity | protein domain homology | Pfam | genetic variation | meta‐domains | genetic tolerance | gnomAD | ClinVar | web server | DATABASE | GENETICS & HEREDITY | meta-domains | MUTATIONS | Gene mutations | Genomics | Analysis | Amino acids | Homology | Genomes | Genetic diversity | Pathogenicity | Proteins | Genetic variance | Intolerance | Genetic analysis | Point mutation | Mutation | Internet | Variation | Informatics
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
MICE | MUTATIONS | GENE | DYNEIN | GENETICS & HEREDITY | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2011, Volume 365, Issue 1, pp. 54 - 61
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 24, pp. 9856 - 9861
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Cardiovascular system | Exome | COS cells | Phenotypes | Blood vessels | Genetic mutation | Embryos | Sequencing | Zinc | Mutant proteins | SET DOMAIN | ZINC FINGERS | GENE | FZD4 | IKAROS | MULTIDISCIPLINARY SCIENCES | NORRIE DISEASE | LRP5 | MUTATIONS | IDENTIFICATION | LOCUS | Gene mutations | Zebra fish | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Retinal diseases | Health aspects | DNA sequencing | Biological Sciences
Journal Article