Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.H5D
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DYNAP

NM_173629.3:p.H5D

Associated Papers

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Ballios BG et al.

Eye (london, England), 2023

GTP regulates the microtubule nucleation activity of γ-tubulin.

Gombos L et al.

Nature Cell Biology, 2013

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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."