The designation of mutations, Am J Hum Genet, vol.53, pp.783-785, 1993. ,
A suggested nomenclature for designating mutations, Human Mutation, vol.1, issue.4, pp.245-248, 1993. ,
DOI : 10.1002/humu.1380020402
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion, Human Mutation, vol.10, issue.1, pp.7-12, 2000. ,
DOI : 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
Standardizing mutation nomenclature: why bother? Hum Mutat, pp.181-182, 2003. ,
Standard Mutation Nomenclature in Molecular Diagnostics, The Journal of Molecular Diagnostics, vol.9, issue.1, pp.1-6, 2007. ,
DOI : 10.2353/jmoldx.2007.060081
Clinical laboratory reports in molecular pathology, Arch Pathol Lab Med, vol.131, pp.852-863, 2007. ,
NCBI Reference Sequences: current status, policy and new initiatives, Nucleic Acids Research, vol.37, issue.Database, pp.32-36, 2009. ,
DOI : 10.1093/nar/gkn721
Ensembl's 10th year, Nucleic Acids Research, vol.38, issue.Database, pp.557-562, 2010. ,
DOI : 10.1093/nar/gkp972
URL : http://doi.org/10.1093/nar/gkp972
dbSNP: the NCBI database of genetic variation, Nucleic Acids Research, vol.29, issue.1, pp.308-311, 2001. ,
DOI : 10.1093/nar/29.1.308
LOVD: Easy creation of a locus-specific sequence variation database using an ???LSDB-in-a-box??? approach, Human Mutation, vol.21, issue.2, pp.63-68, 2005. ,
DOI : 10.1002/humu.20201
UMD (Universal Mutation Database): 2005 update, ): 2005 update, pp.184-191, 2005. ,
DOI : 10.1002/humu.20210
MUTbase: maintenance and analysis of distributed mutation databases, Bioinformatics, vol.15, issue.10, pp.852-859, 1999. ,
DOI : 10.1093/bioinformatics/15.10.852
Maintenance and Analysis of Mutation Databases on the World Wide Web ,
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker, Human Mutation, vol.79, issue.1, pp.6-13, 2008. ,
DOI : 10.1002/humu.20654
Alternative RNA processing events in human calcitonin/calcitonin gene-related peptide gene expression., Proceedings of the National Academy of Sciences, vol.82, issue.7, pp.1994-1998, 1985. ,
DOI : 10.1073/pnas.82.7.1994
INK4a/ARF: A multifunctional tumor suppressor locus, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, vol.576, issue.1-2, pp.22-38, 2005. ,
DOI : 10.1016/j.mrfmmm.2004.08.021
Hemoglobin research and the origins of molecular medicine, Blood, vol.112, issue.10, pp.3927-3938, 2008. ,
DOI : 10.1182/blood-2008-04-078188
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server, Human Mutation, vol.25, issue.3, pp.225-233, 2002. ,
DOI : 10.1002/humu.10044
A Database of Human Hemoglobin Variants and Thalassemias ,
PGK deficiency, British Journal of Haematology, vol.247, issue.1, pp.3-11, 2007. ,
DOI : 10.1006/bcmd.1995.0020
Osteogenesis imperfecta: cloning of a pro-?2(I) collagen gene with a frameshift mutation, J Biol Chem, vol.259, pp.12941-12944, 1984. ,
Molecular Biology of the Human Fibrillar Collagen Genes, Annals of the New York Academy of Sciences, vol.254, issue.1 Third Interna, pp.109-116, 1988. ,
DOI : 10.1073/pnas.84.16.5590
Identification and characterization of six new alternatively spliced variants of the human ?? opioid receptor gene, Oprm, Neuroscience, vol.133, issue.1, pp.209-220, 2005. ,
DOI : 10.1016/j.neuroscience.2004.12.033
Cystic Fibrosis: Genotypic and Phenotypic Variations, Annual Review of Genetics, vol.29, issue.1, pp.777-807, 1995. ,
DOI : 10.1146/annurev.ge.29.120195.004021
1186/gm145 Cite this article as Locus Reference Genomic sequences: an improved basis for describing human DNA variants, Genome Medicine, vol.2, p.1024, 2010. ,