Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.T79R
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POMK

NM_032237.5:p.T79R

Associated Papers

Rare disease gene association discovery in the 100,000 Genomes Project.

Cipriani V et al.

Nature, 2025

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani V et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."