Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2H1
Variant:p.C2182Y
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DYNC2H1

NM_001377.3:p.C2182Y

Associated Papers

Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).

Chen W et al.

Frontiers in Genetics, 2023

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W et al.

Human Mutation, 2018

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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."