Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.S1067N
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ATP7B

NM_000053.4:p.S1067N

Associated Papers

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

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

Nagral A et al.

Indian Journal of Pediatrics, 2023

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Lv W et al.

Clinical Chemistry, 2015

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Weiss KH et al.

Journal of Inherited Metabolic Disease, 2010

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