Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2LI1
Variant:p.D171E
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DYNC2LI1

NM_001348913.2:p.D171E

Associated Papers

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Aubert-Mucca M et al.

Journal of Medical Genetics, 2023

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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."