TBX5 Gene Mutation Database

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TBX5 Gene Mutation Database

[edit] Database Description

AN ONLINE LOCUS SPECIFIC DATABASE CONTAINING GERMLINE AND SOMATIC MUTATIONS OF THE TBX5 GENE, MUTATIONS OFWHICH HAVE BEEN IDENTIFIED AS THE PRIMARY CAUSE IN UP TO 70% OF PATIENTS WITH HOLT-ORAM SYNDROME (HOS).

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