Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D1027H
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ATP7B

NM_000053.4:p.D1027H

Associated Papers

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

Kulkarni AV et al.

Gastro Hep Advances, 2025

Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Wang Y et al.

Frontiers in Genetics, 2023

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Huong NTM et al.

Molecular Genetics and Metabolism Reports, 2022

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Zhang S et al.

Translational Neurodegeneration, 2022

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Li X et al.

American Journal of Medical Genetics. Part A, 2019

Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.

Tuan Pham LA et al.

Journal of Genetics, 2017

BAP1 loss defines a new class of renal cell carcinoma.

Peña-Llopis S et al.

Nature Genetics, 2012

22683710 (PubMed )
Supplement: NIHMS377160-supplement-Suppl__Data_2.xlsx › Suppl._Data_2
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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."