Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.R74insFs
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DNAJC12

NM_021800.3:p.R74insFs

Associated Papers

First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia.

Ogawa E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."