Varaico: Literature-Extracted Genetic Variants

Gene:SEZ6
Variant:p.P48T
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SEZ6

NM_178860.5:p.P48T

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.

Mulley JC et al.

Neurology Research International, 2011

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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."