Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.T327I
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ATP7A

NM_000052.7:p.T327I

Associated Papers

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Copper-associated chronic hepatitis in Cavalier King Charles spaniels.

Nivy R et al.

The Veterinary Record, 2024

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.

Penning LC et al.

Biomedicines, 2023

ATP7A, ATP7B, and RETN genotypes in Labrador Retrievers with and without copper-associated hepatopathy.

Langlois DK et al.

Journal of the American Veterinary Medical Association, 2022

Genotype frequency of ATP7A and ATP7B mutation-related copper-associated hepatitis in a Japanese guide dog Labrador retriever population.

Takanosu M et al.

The Journal of Veterinary Medical Science, 2022

COMMD1 Exemplifies the Power of Inbred Dogs to Dissect Genetic Causes of Rare Copper-Related Disorders.

Corbee RJ et al.

Animals : an Open Access Journal From Mdpi, 2021

Evaluation of COMMD1 in copper toxicosis in Labrador retrievers and Dobermans.

Wu X et al.

Veterinary Journal (london, England : 1997), 2020

Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers.

Wu X et al.

Life (basel, Switzerland), 2020

Reduced FXR Target Gene Expression in Copper-Laden Livers of COMMD1-Deficient Dogs.

Wu X et al.

Veterinary Sciences, 2019

Association of the canine ATP7A and ATP7B with hepatic copper accumulation in Dobermann dogs.

Wu X et al.

Journal of Veterinary Internal Medicine, 2019

Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs.

Pindar S et al.

Human Genetics, 2019

Canine Models for Copper Homeostasis Disorders.

Wu X et al.

International Journal of Molecular Sciences, 2016

The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.

Fieten H et al.

Disease Models & Mechanisms, 2016

Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants.

Haywood S et al.

The Veterinary Record, 0

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