Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.G2036Splc
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SETX

NM_015046.7:p.G2036Splc

Associated Papers

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Ahn JH et al.

Npj Genomic Medicine, 2024

A Case of AOA2 With Compound Heterozygous SETX Mutations.

Chang HJ et al.

Journal of Movement Disorders, 2022

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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."