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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHDDS

Variant:p.R38C

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DHDDS

NM_205861.3:p.R38C

hg38:chr1:26438216 C>T

Associated Papers

Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.

Muffels IJJ et al.

Journal of Inherited Metabolic Disease, 2024

39540616 (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."