Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L394F
Back to variants list

ATP7B

NM_000053.4:p.L394F

Associated Papers

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

Pérez-Santamarina E et al.

Scientific Reports, 2021

33972609 (PubMed )
Supplement: 41598_2021_89300_MOESM1_ESM.pdf
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."