Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0586
Variant:p.R737*
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KIAA0586

NM_001244189.2:p.R737*

Associated Papers

Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.

Shen Y et al.

Cytoskeleton (hoboken, N.j.), 2025

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S et al.

Elife, 2015

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