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Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2014, Volume 42, Issue 1, pp. D485 - D489
Understanding which are the catalytic residues in an enzyme and what function they perform is crucial to many biology studies, particularly those leading to... 
ONTOLOGY | DATABASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | RESOURCE | Enzymes - chemistry | Sequence Analysis, Protein | Catalytic Domain | Internet | Biological Ontologies | Databases, Protein | III. Metabolic and signalling pathways, enzymes
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. D865 - d876
Journal Article
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D1018 - D1027
Abstract The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of... 
PLATFORM | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RD-CONNECT | DISEASE | DATABASES | MUTATIONS | DISCOVERY | TOOL | Database Issue
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1827 - 1834
Rare disease investigators constantly face challenges in identifying additional cases to build evidence for gene‐disease causality. The Matchmaker Exchange... 
novel gene | open‐source | rare disease | Matchmaker Exchange | matchbox | open-source | PLATFORM | DE-NOVO MUTATIONS | DISEASE-GENE | GENETICS & HEREDITY | PHENOTYPES | IDENTIFICATION | Scholarships | Databases
Journal Article
Current protocols in human genetics, ISSN 1934-8266, 10/2017, Volume 95, Issue 1, pp. 9.31.1 - 9.31.15
In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined.... 
DECIPHER | GeneMatcher | MyGene2 | matchbox | candidate genes | matchmaker exchange | PhenomeCentral | Australian Genomics Health Alliance Patient Archive | monarch initiative
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2017, Volume 49, Issue 8, pp. 1231 - 1238
Journal Article