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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHTKD1

Variant:p.M283V

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DHTKD1

NM_018706.7:p.M283V

hg38:chr10:12089115 A>G

Associated Papers

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A et al.

Genes, 2021

35052424 (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."