Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.S26_V27Splc
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DNAJC12

NM_021800.3:p.S26_V27Splc

Associated Papers

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Manti F et al.

Neurology. Genetics, 2026

Characterization of Dnajc12 knockout mice, a model of hypodopaminergia.

Deng IB et al.

Biorxiv : the Preprint Server for Biology, 2024

DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.

Deng IB et al.

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

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Wong RSH et al.

Brain & Development, 2023

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

Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Pillay NS et al.

Frontiers in Genetics, 2022

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 and dopa-responsive nonprogressive parkinsonism.

Straniero L et al.

Annals of Neurology, 2017

DnaJ/Hsp40 Family and Parkinson's Disease.

Hasegawa T et al.

Frontiers in Neuroscience, 2017

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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."