Varaico: Literature-Extracted Genetic Variants

Gene:RETREG1
Variant:p.S276delFs
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RETREG1

NM_001034850.3:p.S276delFs

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 and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

Park GY et al.

Frontiers in Genetics, 2019

RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.

Islam F et al.

Journal of Cellular Physiology, 2018

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.

Ilgaz Aydinlar E et al.

Muscle & Nerve, 2014

Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.

Luo ZY et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."