{"id":1328,"date":"2021-10-22T00:02:48","date_gmt":"2021-10-22T00:02:48","guid":{"rendered":"https:\/\/barthsyndrome.ca\/?page_id=1328"},"modified":"2023-06-10T21:29:15","modified_gmt":"2023-06-10T21:29:15","slug":"human-tafazzin-taz-gene-variants-database","status":"publish","type":"page","link":"https:\/\/barthsyndrome.ca\/human-tafazzin-taz-gene-variants-database\/","title":{"rendered":"Human Tafazzin (TAZ) Gene Variants Database"},"content":{"rendered":"

Human Tafazzin (TAZ) Gene Variants Database<\/h2><\/div><\/div><\/div>
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This database includes mutations and variants even when they are repeated. However, they must be present in unrelated families. The aim is to provide information to physicians as to whether or not a mutation found in a patient has been seen before in other affected individuals.<\/p>\n

The database is also used by researchers. Mutations and variants listed come from the literature, from direct submission by laboratories, and from direct submission by affected families. Pathogenicity of many of the mutations is confirmed by:<\/p>\n