Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D642Y
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ATP7B

NM_000053.4:p.D642Y

Associated Papers

Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.

Al-Obaidi RG et al.

Saudi Medical Journal, 2025

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.

Zhang T et al.

Bmc Pediatrics, 2024

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Nagral A et al.

Indian Journal of Pediatrics, 2023

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.

Kumari N et al.

Human Mutation, 2018

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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."