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COMMUNITY MAP and GENE OMNIBUS
TUBB4A PATIENT MAP
The map below will show where our H-ABC patients are located. It is a work in progress and will be updated shortly
TUBB4A Gene Omnibus
The H-ABC Foundation UK has launched its H-ABC Gene Variant Omnibus Project. We aim to list and track the H-ABC TUBB4A gene variants* that are associated with the H-ABC phenotype and record their frequency. To date 53 TUBB4A variants have been identified among the extant clinical literature and/or voluntarily reported to our patient registry. The current list of variants can be found below in the Word document. The latest list has been updated in February 2023.
We thank volunteer EJ.K. for assembling the H-ABC Gene Variant Omnibus. The list below is the one that stands as most contemporary. As we receive additional data on new mutations we will update the Omnibus.
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