Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.T237A
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ALPK1

NM_025144.4:p.T237A

Associated Papers

Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene.

Sun Z et al.

American Journal of Ophthalmology, 2026

Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Snelling T et al.

Open Biology, 2024

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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."