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Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
Neuron, ISSN 0896-6273, 10/2016, Volume 92, Issue 2, pp. 336 - 338
It has recently been reported that an missense variant, R415Q, causes a novel familial form of multiple sclerosis ( ). This claim is at odds with publicly... 
SEQUENCE VARIANTS | NEUROSCIENCES | DISEASE | GUIDELINES | MUTATION | Exome | Female | Male | Multiple Sclerosis - genetics | Gene Frequency | Humans | Population genetics | Multiple sclerosis | Inflammatory bowel disease | Consortia | Genealogy | Disease | Womens health | Genes | Quality | Population | Health risk assessment
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 04/2019, Volume 116, Issue 16, pp. 7793 - 7798
Journal Article
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Journal Article
Science Translational Medicine, ISSN 1946-6234, 01/2016, Volume 8, Issue 322, pp. 322 - 322pc1
Journal Article
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