Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.G284S
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PRKN

NM_004562.3:p.G284S

Associated Papers

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

Lin X et al.

European Journal of Medical Research, 2025

Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.

Gross A et al.

Febs Letters, 2024

38575527 (PubMed )
Supplement: EMS198546-supplement-Supplemental_material.pdf

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.

Bademci G et al.

Cns & Neurological Disorders Drug Targets, 2012

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