Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC12
Variant:p.V53Splc
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DNAJC12

NM_021800.3:p.V53Splc

Associated Papers

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Manti F et al.

Neurology. Genetics, 2026

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model.

Wang S et al.

Orphanet Journal of Rare Diseases, 2025

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Wong TS et al.

International Journal of Neonatal Screening, 2024

DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.

Deng IB et al.

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

Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia.

Wang L et al.

Gene, 2023

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