Varaico: Literature-Extracted Genetic Variants

Gene:KIF12
Variant:p.R219*
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KIF12

NM_138424.2:p.R219*

Associated Papers

Youngest Living Donor Liver Transplant for End-Stage Liver Disease in a 6-Month-Old With a Novel Aggressive Mutation in KIF12 Gene.

Gautam V et al.

Pediatric Transplantation, 2024

Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.

Waheed N et al.

Clinical Genetics, 2024

KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.

Stalke A et al.

The Journal of Pediatrics, 2022

Recessive Mutations in KIF12 Cause High Gamma-Glutamyltransferase Cholestasis.

Ünlüsoy Aksu A et al.

Hepatology Communications, 2019

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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."