Varaico: Literature-Extracted Genetic Variants

Gene:RETREG1
Variant:p.K299delFs
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RETREG1

NM_001034850.3:p.K299delFs

Associated Papers

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

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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."