Standardizing mutation nomenclature: why bother? [Hum Mutat. 2003] - PubMed

Recommendations for locus-specific databases and their curation. [Hum Mutat. 2008]
Recommendations for locus-specific databases and their curation.
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, et al. Hum Mutat. 2008 Jan; 29(1):2-5.
Human reference sequence makes sense of names. [Nature. 2007]
Human reference sequence makes sense of names.
Crawford DL. Nature. 2007 May 10; 447(7141):142.
Under the MIAME sun. [Nat Methods. 2006]
Under the MIAME sun.
. Nat Methods. 2006 Jun; 3(6):415.
Review The challenges of recording phenotype in a generalizable and computable form. [Pharmacogenomics J. 2003]
Review The challenges of recording phenotype in a generalizable and computable form.
Nadkarni PM. Pharmacogenomics J. 2003; 3(1):8-10.
Review Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. [Hum Mutat. 2003]
Review Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, et al. Hum Mutat. 2003 Sep; 22(3):199-208.

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. [BMC Bioinformatics. 2011]
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.
Laros JF, Blavier A, den Dunnen JT, Taschner PE. BMC Bioinformatics. 2011; 12 Suppl 4:S5. Epub 2011 Jul 5.
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations. [Eye (Lond). 2011]
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Cohn AC, Turnbull C, Ruddle JB, Guymer RH, Kearns LS, Staffieri S, Daggett HT, Hewitt AW, Mackey DA. Eye (Lond). 2011 Feb; 25(2):208-17. Epub 2010 Nov 26.
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. [Hum Mutat. 2010]
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, et al. Hum Mutat. 2010 Dec; 31(12):E1894-914.

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Standardizing mutation nomenclature: why bother?
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Hum Mutat. 2003 Sep ;22(3):181-2.

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