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European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1052 - 1058
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 01/2016, Volume 12, Issue 1
  The identification of a causal mutation is essential for molecular diagnosis and clinical management of many genetic disorders. However, even if... 
Proteins | Studies | Datasets | Hospitals | Statistical analysis | Disease | Genes | Genomes | Mutation | Experiments | Bioinformatics | Cancer
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 02/2018, Volume 62, Issue 2, pp. 821 - 831
Heterozygous SORL1 protein truncating variants (PTV) are a strong risk factor for early-onset Alzheimer’s disease (EOAD). In case control studies performed at... 
Carriers | Sequences | Splicing | Nonsense mutation | Health risks | Dementia disorders | Genetics | Stop codon | Genomes | Disease control | Age | Risk factors
Journal Article
Human Mutation, ISSN 1059-7794, 04/2015, Volume 36, Issue 4, pp. 443 - 453
Journal Article
Human Mutation, ISSN 1059-7794, 01/2017, Volume 38, Issue 1, pp. 64 - 77
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2017, Volume 25, Issue 10, pp. 1147 - 1154
Journal Article
Journal Article