Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.P189L
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PRKN

NM_004562.3:p.P189L

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.

Avenali M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

33617695 (PubMed )
Supplement: MDS-36-1267-s001.docx

Covalent Modification and Regulation of the Nuclear Receptor Nurr1 by a Dopamine Metabolite.

Bruning JM et al.

Cell Chemical Biology, 2019

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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."