January 01, 1993 article A suggested nomenclature for designating mutations Human Mutation DOI: 10.1002/humu.1380020402 OpenAlex Authors 0 Author list not loaded yet. Cited by 3 stored of 311 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 A graph-based approach to variant description extraction from sequences 2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access 0 citations Mutalyzer 2: next generation HGVS nomenclature checker 2021 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 132 citations Mutalyzer 2: Next Generation HGVS Nomenclature Checker 2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 9 citations 3 results References 0