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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CETN3

Variant:p.E43_A44del2

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CETN3

NM_004365.4:p.E43_A44del2

hg38:chr5:90407719 TTGCTTC>T

Associated Papers

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Xu J et al.

Embo Molecular Medicine, 2025

40926052 (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."