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Locus-Specific DataBases LSDBs


Store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists easy access to an up-to-date overview of all gene variants identified worldwide and whether they influence the function of the gene ("pathogenic or not").

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LSDBs classification

  • Animals
    • Homo sapiens

LSDBs specifications

Restrictions to use:

LSDBs distribution

LSDBs support


  • Christophe Béroud <>


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INSERM U383, Hôpital Necker Enfants Malades, Clinique Maurice Lamy, Paris, France; Laboratoire de Biochimie, d'Hormonologie et de Génétique Moléculaire, Hôpital Ambroise Paré, Boulogne, France; Institut Curie, UMR 218 CNRS, Pavillon Trouillet Rossignol, Paris, France

Link to literature

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