Varaico: Literature-Extracted Genetic Variants

Gene:RETREG1
Variant:p.K299fs
Back to variants list

RETREG1

NM_001034850.3:p.K299fs

Associated Papers

FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.

Chen N et al.

International Journal of Biological Sciences, 2025

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.

Çakar A et al.

Journal of the Peripheral Nervous System : Jpns, 2023

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Falcão de Campos C et al.

Journal of the Peripheral Nervous System : Jpns, 2019

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J et al.

Bmj Open, 2018

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."