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Genetics
What is a gene variant and how do variants occur
FKTN gene
Congenital bilateral absence of the vas deferens
Triosephosphate isomerase deficiency
Carbonic anhydrase VA deficiency
PHKA1 gene
Diastrophic dysplasia
Succinate-CoA ligase deficiency
PMS2 gene
Hereditary sensory neuropathy type IA
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