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DHTKD1 - dehydrogenase E1 and transketolase domain containing 1
Diseases list
- Disease-causing germline mutation(s) in 2-aminoadipic 2-oxoadipic aciduria
ORPHA:79154 - Disease-causing germline mutation(s) (loss of function) in Autosomal dominant Charcot-Marie-Tooth disease type 2Q
ORPHA:329258

Gene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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