Varaico: Literature-Extracted Genetic Variants

Gene:RETREG1
Variant:p.S276fs
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RETREG1

NM_001034850.3:p.S276fs

Associated Papers

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.

Çakar A et al.

Journal of the Peripheral Nervous System : Jpns, 2023

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

Islam F et al.

Journal of Cellular Physiology, 2018

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Wakil SM et al.

Case Reports in Genetics, 2018

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

Ilgaz Aydinlar E et al.

Muscle & Nerve, 2014

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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."