Varaico: Literature-Extracted Genetic Variants

Gene:ATG9A
Variant:p.E193K
Back to variants list

ATG9A

NM_001077198.3:p.E193K

Associated Papers

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari D et al.

Brain Communications, 2021

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."