Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease

Indian journal of pediatrics, Vol. 90, Issue 3, Pages 240-248, 2022

PMID: 36112267

To report genotype data of the patients with Wilson disease (WD) hailing from across several parts of India to add to the available spectrum of causative variants in ATP7B gene (ATPase copper transporting beta polypeptide gene) and associated phenotypes in the Indian population.

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