Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.R6*
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ATL3

NM_015459.5:p.R6*

Associated Papers

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.

Khalilian S et al.

Bmc Medical Genomics, 2025

Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.

Zhao XY et al.

Neural Regeneration Research, 2025

Human TMEFF1 is a restriction factor for herpes simplex virus in the brain.

Chan YH et al.

Nature, 2024

39048830 (PubMed )
Supplement: 41586_2024_7745_MOESM1_ESM.pdf

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka A et al.

Brain : a Journal of Neurology, 2023

A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.

Mohammadi S et al.

Annals of Human Genetics, 2023

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.

Pyromali I et al.

Biomedicines, 2023

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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."