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Guidelines for human gene nomenclature


Annales de Biologie Clinique. Volume 60, Number 3, 347-50, Mai - Juin 2002, Pratique quotidienne

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Author(s) : F. Wojcik

Summary : As given the abundance of information on the human genome which as accumulated over the two past decades, the necessity of harmonizing the rules of nomenclature for human genes and mutations has become a demand of the scientific community. Indeed, the estimated number of human genes is about 35,000, and the number of mutations might be of the order of several millions. The purpose of this article is to present the recommendations for human gene nomenclature published by the HGNC (human gene nomenclature committee), as well as the main databases in which the reader may find or check the correct denomination of a human gene or mutation.

Keywords : Nomenclature - Human genes - Mutations - Genetics.

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