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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETX

Variant:p.F1599S

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SETX

NM_015046.7:p.F1599S

hg38:chr9:132326802 A>G

Associated Papers

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Baumgartner D et al.

Journal of Neuromuscular Diseases, 2024

39058450 (PubMed )

Next generation sequencing and its application in the diagnostics of neuromuscular diseases.

Zídková J et al.

Ceskoslovenska Patologie, 2021

34551563 (PubMed )

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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."