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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DMXL2

Variant:p.K1674Q

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DMXL2

NM_001378457.1:p.K1674Q

hg38:chr15:51488579 T>G

Associated Papers

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Yahia A et al.

European Journal of Human Genetics : Ejhg, 2024

37012327 (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."