Varaico: Literature-Extracted Genetic Variants

Gene:KIF12
Variant:p.R219H
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KIF12

NM_001388308.1:p.R219H

Associated Papers

Cholestatic Liver Disease in a Child with KIF12 Mutation.

Samanta A et al.

Indian Journal of Pediatrics, 2024

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.

Gambella A et al.

Cells, 2023

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