Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.Q115L
Back to variants list

SQSTM1

NM_003900.5:p.Q115L

Associated Papers

Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.

Wang S et al.

Journal of Medical Genetics, 2024

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

Exome sequencing in dementia with Lewy bodies.

Keogh MJ et al.

Translational Psychiatry, 2016

26836416 (PubMed )
Supplement: tp2015220x1.docx
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."