Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0586
Variant:p.R838*
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KIAA0586

NM_001244189.2:p.R838*

Associated Papers

Molecular treatment options for patients carrying KIAA0586/TALPID3 variants.

Taudien JE et al.

Molecular Therapy. Nucleic Acids, 2025

Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia.

Taudien JE et al.

Iscience, 2025

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

Stephen LA et al.

Elife, 2015

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