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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP214

Variant:p.P202_G204del3

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NUP214

NM_005085.4:p.P202_G204del3

hg38:chr9:131130776 CCCCAAAGGA>C

Associated Papers

c.202_204del in NUP214 causes late onset form of febrile encephalopathy.

Farooqui S et al.

American Journal of Medical Genetics. Part A, 2024

38179855 (PubMed )

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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."