Varaico: Literature-Extracted Genetic Variants

Gene:KIF12
Variant:p.R220Q
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KIF12

NM_001388308.1:p.R220Q

Associated Papers

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Vogel GF et al.

Clinical Genetics, 2024

Cholestatic Liver Disease in a Child with KIF12 Mutation.

Samanta A et al.

Indian Journal of Pediatrics, 2024

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