Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I1311T
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ATP7B

NM_000053.4:p.I1311T

Associated Papers

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.

Lorente-Arencibia P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2022

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

Sánchez-Monteagudo A et al.

Clinical Genetics, 2020

[Complexity of the diagnosis of Wilson disease in clinical practice: our experience in 15 patients].

Huarte-Muniesa MP et al.

Gastroenterologia Y Hepatologia, 0

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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."