Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2H1
Variant:p.H341R
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DYNC2H1

NM_001377.3:p.H341R

Associated Papers

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S et al.

Human Genome Variation, 2021

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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."