Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.A16V
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RBM8A

NM_005105.5:p.A16V

Associated Papers

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.

Rushforth R et al.

Hgg Advances, 2026

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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."