Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q311_Y312Splc
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PRKN

NM_004562.3:p.Q311_Y312Splc

Associated Papers

Exonic splicing code and coordination of divalent metals in proteins.

Bakhtiar D et al.

Nucleic Acids Research, 2024

38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

Pigullo S et al.

Parkinsonism & Related Disorders, 2004

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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."