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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUGT1

Variant:p.V292M

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SUGT1

NM_006704.5:p.V292M

hg38:chr13:52680129 G>A

Associated Papers

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.

Chi CS et al.

Human Genetics, 2023

36847845 (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."