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& Yu, Z
19, 20 The p.Asp444His variant in trans with a severe BTD pathogenic variant is associated with partial biotinidase deficiency, while in cis with p.Ala171Thr (i.e., as the double mutant p.[(Ala171Thr);(Asp444His)]), results in a profound biotinidase deficiency allele

Chojnacki, A

doi: 10.1007/s12035-019-01821-4
