Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.G20fs
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DNAJC12

NM_021800.3:p.G20fs

Associated Papers

DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.

Deng IB et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Fino E et al.

Molecular Genetics and Metabolism Reports, 2023

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Li M et al.

Molecular Genetics & Genomic Medicine, 2020

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Veenma D et al.

European Journal of Human Genetics : Ejhg, 2018

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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."