November 03, 2011 article Open access Guidelines for establishing locus specific databases Human Mutation DOI: 10.1002/humu.21646 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 3 stored of 52 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome 2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 20 citations ACO2 clinicobiological dataset with extensive phenotype ontology annotation 2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 8 citations Data sharing and gene variant databases 2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases 1 citations 3 results References 0