Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.G341insFs
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SLC52A2

NM_001363118.2:p.G341insFs

Associated Papers

Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.

Yuan F et al.

The Journal of International Advanced Otology, 2025

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.

Shi K et al.

Bmc Medical Genetics, 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."