Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Q129*
Back to variants list

PINK1

NM_032409.3:p.Q129*

Associated Papers

Alternative pre-mRNA Splicing and Gene Expression Patterns in Midbrain Lineage Cells Carrying Familial Parkinson's Disease Mutations.

Lee YJ et al.

Biorxiv : the Preprint Server for Biology, 2025

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.

Busquets O et al.

Biorxiv : the Preprint Server for Biology, 2025

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Brain mitochondrial impairment in early-onset Parkinson's disease with or without PINK1 mutation.

Rango M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Advances in the genetics of Parkinson disease.

Trinh J et al.

Nature Reviews. Neurology, 2013

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

Nishioka K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

PINK1 mutations and parkinsonism.

Ishihara-Paul L et al.

Neurology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."