Varaico: Literature-Extracted Genetic Variants

Gene:CEP192
Variant:p.N1917S
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CEP192

NM_032142.4:p.N1917S

Associated Papers

Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.

Li K et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

The conserved Spd-2/CEP192 domain adopts a unique protein fold to promote centrosome scaffold assembly.

Hu L et al.

Science Advances, 2025

Mosaic variegated aneuploidy in development, ageing and cancer.

Malumbres M et al.

Nature Reviews. Genetics, 2024

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Guo J et al.

Hgg Advances, 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."