Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.T99_S100Splc
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DNAJC12

NM_021800.3:p.T99_S100Splc

Associated Papers

Restless legs syndrome in DNAJC12 deficiency.

Porta F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Gallego D et al.

Human Mutation, 2020

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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."