Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.K58_L59del2
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DNAJC12

NM_021800.3:p.K58_L59del2

Associated Papers

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Manti F et al.

Neurology. Genetics, 2026

DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.

Fino E et al.

Molecular Genetics and Metabolism Reports, 2023

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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."