omia.variant:623
Genomic description: NC_058372.1:g.[148709018_148709020del;148709021_148709037dup]
Coding DNA description: XM_003986708.4:c.[995_1011dup;1011_1014del]
Protein description: XP_003986757.2:p.(A338Sfs*21)
Gene: TBXT
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