Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.P373L
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DHTKD1

NM_018706.7:p.P373L

Associated Papers

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."